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Background: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease progressively affecting cognitive and motor functions, most often caused by mutations in the colony-stimulating factor 1 receptor gene (CSF1R). / Aim: To elucidate the mechanism of disease progression, changes in white matter lesions and cortical cerebral blood flow (CBF) were evaluated in cases during various stages of the disease. ...

A 70-year-old man presented with slow gait and a clumsy hand on the right side. Neurological examination revealed dystonia and ideomotor apraxia in the right hand. A mask-like face, rigidity in the right arm, and shuffling gait were noticed. Treatment with L-dopa had no effect. He was ......

Background: Clinical staging of Alzheimer disease (AD) may help develop novel treatment in the early stage. / Aim: We measured the accumulation of amyloid beta (Aβ) and tau with positron emission tomography (PET) in patients with AD to explore its utility for clinical staging. / Methods: Six patients with AD, two patients with mild cognitive impairment (MCI), and 12 healthy controls (HC) were studied. Aβ and tau accumulation was evaluated with [^11 C]PiB and [^11 C]PBB3, respectively....

Eosinophilic granulomatosis with polyangiitis (EGPA) is often associated with peripheral neuropathy, but reports of central nervous system involvement are quite rare. We herein report a patient with EGPA first identified as having hypereosinophilia who later developed asthma, eosinophilic otitis media, sinusitis, and hemorrhagic colitis. She subsequently developed hemiparesis. Head magnetic resonance imaging revealed multiple cerebral infarctions with subcortical and subarachnoid hemorrhaging colocalized at the bilateral border zone areas. She was diagnosed with EGPA-induced stroke and successfully treated with oral prednisolone. Inflammation in the small cerebral arteries in EGPA may induce bilateral border zone infarction with colocalizing subcortical and subarachnoid hemorrhaging.

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases.

Background: We previously reported that among cases clinically diagnosed with Alzheimer’s disease, the proportion of amyloid beta (Aβ) -negative case increases in the elderly population. Tauopathy including Argyrophilic Grain Disease (AGD) and Neurofibrillary Tangle-Predominant Dementia (NFTPD), may be the leading causes of such dementia. Objective: To evaluate the involvement of tau, we studied tau accumulation in Amyloid-Negative Dementia Cases in the Elderly (ANDE) with Positron Emission Tomography (PET). Methods: Seven cases with slowly progressive dementia who were older than 80 years and were negative for Aβ were studied. In one case, autopsy obtained 2 years after the PET examination revealed neurofibrillary tangles limited around the parahippocampal gyrus. Four cases showed strong laterality in magnetic resonance imaging atrophy (clinical AGD), while the other three cases had no significant laterality in atrophy (clinical NFTPD). Age-corrected PET data of healthy controls (HC; n = 12) were used as control. Tau accumulation was evaluated with [11C]PBB3-PET. Results: High accumulation was found in the lateral temporal cortex in ANDE. In autopsy case, scattered neurofibrillary tangles were found in the parahippocampal gyrus. In addition, there was a very high accumulation of PBB3 in the large area of bilateral parietal lobes, although no corresponding tau component was found in the autopsied case. Conclusion: Relatively high burden of tau deposition was commonly observed in the lateral temporal cortex and parietal cortex of ANDE, part of which may explain dementia in these subjects. [11C]PBB3 may be useful in detecting tauopathy in ANDE.

Disposition of amyloid β (Aβ) into the perivascular space of the cerebral cortex has been recently suggested as a major source of its clearance, and its disturbance may be involved in the pathogenesis of cerebral amyloid angiopathy and Alzheimer’s disease. Here, we explored the in vivo dynamics of Aβ in the perivascular space of anesthetized mice. Live images were obtained with two-photon microscopy through a closed cranial window. Either fluorescent-dye-labeled Aβ oligomers prepared freshly or Aβ fibrils after 6 days of incubation at 37 °C were placed over the cerebral cortex. Accumulation of Aβ was observed in the localized perivascular space of the penetrating arteries and veins. Transportation of the accumulated Aβ along the vessels was slow and associated with changes in shape. Aβ oligomers were transported smoothly and separately, whereas Aβ fibrils formed a mass and moved slowly. Parenchymal accumulation of Aβ oligomers, as well as Aβ fibrils along capillaries, increased gradually. In conclusion, we confirmed Aβ transportation between the cortical surface and the deeper parenchyma through the perivascular space that may be affected by the peptide polymerization. Facilitation of Aβ excretion through the system can be a key target in treating Alzheimer’s disease.

Fronto-temporal dementia (FTD) is a heterogenous clinical syndrome with a progressive decline in behaviour, executive function, and language. Approximately 40% of FTD patients report a family history, and 10–15% of FTD cases show an autosomal dominant pattern of inheritance. FTD often mimics psychiatric disorders because of the prominent behavioural features, and particularly in the early stages, the only manifestation of illness may be purely behavioural. There is significant clinical, pathological, and genetic overlap between FTD and motor neuron disease/amyotrophic lateral sclerosis (FTD-ALS) and two atypical Parkinsonian syndromes—progressive supranuclear palsy (PSP) and cortico-basal degeneration (CBD). FTD is associated with non-Alzheimer’s disease pathology and the molecular aggregation of specific proteins—tau, TAR-DNA binding protein (TDP), and fused in sarcoma (FUS). Advances in clinical, imaging, and molecular characterization have increased the accuracy of FTD diagnosis. At present, appropriate management of FTD symptoms involves a combination of pharmacological therapy with techniques involving behavioural, physical, and environmental manipulation.

Globular glial tauopathy (GGT) is a 4-repeat (4R) tauopathy in which 4R tau accumulates to form globular glial inclusions (GGIs), predominantly in oligodendroglia. To date, little has been reported on iron deposits in patients with GGT. We report a case of GGT with iron deposits in a 78-year-old woman presenting with an 8-year history of slowly progressing limb weakness and cognitive decline. Susceptibility-weighted imaging revealed a low signal intensity in the right precentral gyrus, suggesting iron deposition. A clinical diagnosis of motor neuron disease with dementia was made 4 years after onset. At autopsy, gross pathological findings showed atrophy of the frontal and temporal lobes. A localized area of the precentral gyrus corresponding to the most severely affected limb showed the strongest atrophy, macroscopically, and displayed 4R tau-immunoreactive GGIs and microscopically many ferritin-immunoreactive neurons. We diagnosed this patient as having GGT. This is the first GGT case with iron deposition confirmed both radiologically and pathologically.

11 AbbreviationsBDI, Beck Depression Inventory; CFS, Chalder Fatigue Scale; EDSS, Expanded Disability Status Scale; HC, Health control subjects; MMSE, Mini-Mental State ExaminationMS, Multiple sclerosis; PASAT, Paced Auditory Serial Addition Test; QoL, Quality-of-lifeSD, Standard deviation; SDMT, Symbol Digit Modalities Test; VC, Visual cancellation;: Background: Depression and fatigue are debilitating symptoms in multiple sclerosis (MS), which affect cognitive function. This study investigated the association between depression and fatigue, and whether depression or fatigue influences cognition in MS patients. Methods: Twenty MS patients were included. The severity of fatigue was assessed using the Chalder Fatigue Scale (CFS), which classified CFS_Physical and CFS_Mental fatigue and MMSE. Depression was assessed using the Beck Depression Inventory (BDI). Attention deficit was evaluated using several tasks. The CFS scores, the BDI scores and performance during the attention tasks were compared between MS patients and healthy control subjects (HCs). Correlations between CFS sub-scores, BDI values, and participants’ attention performance were also investigated. Results: The total CFS, BDI, and MMSE scores were significantly worse in MS patients compared to HCs (p

Author(s): Takeda, Akitoshi; Sturm, Virginia E; Rankin, Katherine P; Ketelle, Robin; Miller, Bruce L; Perry, David C | Abstract: BackgroundBehavioral variant frontotemporal dementia (bvFTD) is characterized by marked deficits in empathy and social behavior; however, the effect of these symptoms on partner relationships has not been quantitatively measured.ObjectiveWe aimed to determine the effect of empathy loss and behavioral symptoms on partner and familial relationship status in bvFTD. We ascertained whether patients were currently in marriage/partner relationships or were separated/divorced, the timing and duration of these relationships, and whether the patients had relationship infidelity. We investigated the relationship status of 483 patients (156 with bvFTD, 38 with nonfluent variant primary progressive aphasia, 72 with semantic variant primary progressive aphasia, 49 with corticobasal syndrome, 45 with progressive supranuclear palsy syndrome, and 123 with Alzheimer disease) over the course of follow-up, and correlated relationship status with patients' first visit Interpersonal Reactivity Index and Neuropsychiatric Inventory.ResultsRelationship dissolution and infidelity were significantly more frequent among patients with bvFTD than in the other groups. Across all patients, empathy loss was associated with relationship dissolution. In the bvFTD group, patients who experienced relationship dissolution or infidelity had significantly lower empathy than those who did not.ConclusionsChanges in relationship status differed across dementia groups and were associated with empathy decline.

Background The detection of amyloid β accumulation might be useful in confirming the diagnosis of Alzheimer's disease in clinically suspected cases. However, confirmation of the disease by a positron emission tomography scan is not always available. Aim We measured the cerebral blood flow in clinically suspected Alzheimer's disease cases, and compared the findings between amyloid-positive and -negative cases. Methods At the Osaka City University Hospital, patients with “probable or possible Alzheimer's disease” were enrolled. In addition, “healthy volunteers” with no subjective decline in cognitive function or in cognitive tests were evaluated as controls. A positron emission tomography scan with Pittsburgh compound B as a tracer was utilized to detect amyloid accumulation. Results In the healthy control cases aged >60 years, a positive rate of amyloid increased steeply with age. In contrast, an amyloid-positive rate decreased with age in the clinically suspected Alzheimer's disease cases aged >60 years. The Mini-Mental State Examination score was higher and the disease duration was longer in the amyloid-negative group than in the positive group, suggesting a slower progression of dementia in the amyloid-negative patients, though the tendency failed to reach the statistical significance. Cerebral blood flow decrease was classified into four patterns. Typical Alzheimer's disease patterns were found exclusively in the amyloid-positive group, whereas frontal dominant and temporal dominant were more frequently found in the amyloid-negative group. Conclusion Even in the era of amyloid imaging, cerebral blood flow measurement can help differentiate Alzheimer's disease from other diseases causing apparent Alzheimer's disease-type cognitive impairment.

Background In patients with multiple sclerosis (MS), development of hepatic injury has been sporadically reported after methylprednisolone (MP) pulse therapy. Some studies suggest autoimmune hepatitis, while other studies reported direct hepatotoxicity as a cause for hepatic injury. Here, we studied the pathological mechanism of such liver injury in patients with MS. Methods From 2005 to 2016, eight patients with MS developed liver injury after MP pulse therapy. Their average age was 38 years (range: 28–49 years, all female). Autoimmune antibodies were measured and a liver biopsy was performed in seven patients. Results Liver injury developed within two weeks in two patients and later (30–90 days after MP) in six patients. No hepatitis-related autoantibody or hepatitis virus were found. All cases were classified as hepatocellular injury and none as cholestatic or mixed. A liver biopsy in five cases revealed centrilobular necrosis with lobular infiltrates of inflammatory cells, suggesting drug-induced acute hepatitis. The biopsy findings in another case suggested a residual stage of acute hepatitis. Only one patient showed portal expansion with periportal fibrosis, suggesting autoimmune hepatitis. All patients recovered spontaneously or with only hepatoprotective drugs, although one patient with possible autoimmune hepatitis recovered slowly. Conclusion Liver injury develops usually later than two weeks after MP treatment. The prognosis is good in most cases and rarely autoimmune hepatitis may be involved.

We previously identified a novel mutation in amyloid precursor protein from a Japanese pedigree of familial Alzheimer’s disease, FAD (Osaka). Our previous positron emission tomography (PET) study revealed that amyloid β (Aβ) accumulation was negligible in two sister cases of this pedigree, indicating a possibility that this mutation induces dementia without forming senile plaques. To further explore the relationship between Aβ, tau and neurodegeneration, we performed tau and Aβ PET imaging in the proband of FAD (Osaka) and in patients with sporadic Alzheimer’s disease (SAD) and healthy controls (HCs). The FAD (Osaka) patient showed higher uptake of tau PET tracer in the frontal, lateral temporal, and parietal cortices, posterior cingulate gyrus and precuneus than the HCs (>2.5 SD) and in the lateral temporal and parietal cortices than the SAD patients (>2 SD). Most noticeably, heavy tau tracer accumulation in the cerebellum was found only in the FAD (Osaka) patient. Scatter plot analysis of the two tracers revealed that FAD (Osaka) exhibits a distinguishing pattern with a heavy tau burden and subtle Aβ accumulation in the cerebral cortex and cerebellum. These observations support our hypothesis that Aβ can induce tau accumulation and neuronal degeneration without forming senile plaques.

Pulmonary arteriovenous fistula (PAVF), a vessel malformation connecting the pulmonary circulation to the systemic circulation while bypassing the pulmonary capillaries, can cause paradoxical cerebral infarction. It is often associated with hereditary hemorrhagic telangiectasia (HHT), a genetic disease characterized by multiple dermal, mucosal, and visceral telangiectasia causing recurrent bleeding. Paradoxical cerebral embolism caused by PAVF without HHT is rare. Here, we report a patient with isolated PAVF who experienced an ischemic stroke caused by a paradoxical embolism from deep venous thrombosis; the patient was successfully treated with recombinant tissue plasminogen activator. She presented with a decrease in arterial oxygen saturation to 91%, and lung disease was suspected. A PAVF was subsequently found in the right S6 region using contrast computed tomography. Interventional radiologists successfully occluded the shunt using 6 microcoils. PAVF should be considered when determining the pathogenesis of cerebral ischemia in patients with hypoxia, which can be the only symptom of PAVF.

Objective: Different regional specificity in tau accumulation is well known in Alzheimer’s disease (AD) brains. However, little is known about such distribution in aging brains and mild cognitive impairment (MCI) brains. Methods: Cognitive functions and regional accumulation of tau and amyloid β (Aβ) were evaluated in 13 healthy controls (HCs), 3 patients with MCI and 4 AD patients. Tau and Aβ accumulation was semi-quantitatively measured with positron emission tomography (PET) using [11C]pyridinyl-butadienyl-benzothiazole 3 (PBB3) and [11C]Pittsburgh compound-B (PiB). Results: Age-dependent accumulation of tau was found in all predetermined regions characteristic of AD, especially in the parahippocampal gyrus, lateral temporal cortex, frontal cortex, and posterior cingulate gyrus, where age-dependency was statistically significant. In contrast, age-dependency in accumulation of Aβ was not observed in most regions assessed in HC. Moreover, the accumulation of tau in regions characteristic of AD in MCI patients was higher than that in HC, whereas tau accumulation was highest and statistically significant in AD patients. Unlike HC, the accumulation of tau was accompanied by that of Aβ in patients with MCI and AD. Conclusion: Mild and age-dependent accumulation of tau without Aβ was found in AD-related areas in aging brains. Considering age as a major risk for AD, higher accumulation of tau may trigger the neurodegenerative process of AD.

Among 249 patients with teratoma-associated encephalitis, 211 had N-methyl-D-aspartate receptor antibodies and 38 were negative for these antibodies. Whereas antibody-positive patients rarely developed prominent brainstem–cerebellar symptoms, 22 (58%) antibody-negative patients developed a brainstem–cerebellar syndrome, which in 45% occurred with opsoclonus. The median age of these patients was 28.5 years (range = 12–41), 91% were women, and 74% had full recovery after therapy and tumor resection. These findings uncover a novel phenotype of paraneoplastic opsoclonus that until recently was likely considered idiopathic or postinfectious. The triad of young age (teenager to young adult), systemic teratoma, and high response to treatment characterize this novel brainstem–cerebellar syndrome. ANN NEUROL 2014;75:435–441

A 44 year old male presented with gait disturbance and showed rigidity, bradykinesia and small steppage gait. In his infancy, he had mental and motor retardation. MRI revealed pathognomonic iron deposition. He was diagnosed to have β-propeller protein-associated neurodegeneration (BPAN) with a de novo somatic mosaic mutation in WDR45.

This study aimed to test whether type 1 myotonic dystrophy (DM1) patients who have a lower sensitivity to emotional facial expressions have an abnormal olfactory threshold or recognition level. We measured DM1 patients’ performances in an olfactory acuity test and respiratory responses to odor stimuli, and compared their results to those of healthy controls (HCs). We found that DM1 patients exhibited a significantly reduced odor detection sensitivity compared with that in HCs. Three out of seven DM1 patients exhibited impaired odor recognition, while other four patients had significantly lower odor recognition compared with HCs. Even when patients were able to identify the type of odor, the levels of pleasantness they reported experiencing in response to a pleasant odor were significantly lower than those reported by HCs. These subjective data in DM1 patients were reflected in the respiratory responses (RRs). In the current study, one patient showed impairments in both odor detection and odor recognition. Abnormalities of the olfactory limbic areas might have been the cause of the olfactory impairments observed in the DM1 patients.

To prospectively investigate brain temperature using MR diffusion-weighted imaging thermometry in multiple sclerosis (MS) patients and age-matched healthy controls, to examine comparisons of brain temperature between MS patients and healthy volunteers, and to examine correlations between brain temperature and disease duration and between brain temperature and Expanded Disability Status Scale (EDSS) in MS patients.Thirteen MS patients and 13 age-matched healthy controls were examined using a 3.0 Tesla MR unit from January 2011 to February 2013. Brain temperature in each participant was measured using diffusion-weighted imaging-based MR thermometry of the lateral ventricles. Group comparisons of brain temperature between MS patients and healthy controls were performed using the Student's t-test. The determination of correlation between brain temperature in MS patients and disease duration, and between brain temperature and EDSS were performed using a Pearson's correlation coefficient test. For statistical analyses, values of P 0.05 were considered statistically significant.Median brain temperature was 35.81°C (range, 35.06-37.03°C) in MS patients, and 36.29°C (range, 35.51-37.89°C) in healthy controls representing a significant difference (P = 0.020). No significant correlation of both between brain temperature and disease duration and between brain temperature and EDSS were identified (r/P = -0.382/0.198, -0.026/0.933).Brain temperature was significantly lower in MS patients than in healthy controls, probably representing decreased brain metabolism in MS patients.

To describe an unusual case of a male patient with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis who presented with multiple white matter lesions. Brain biopsy of the patient was performed, and follow-up evaluation of the cerebrospinal fluid (CSF) NMDAR antibody titer was implemented.Case report.University hospital.A 35-year-old man with anti-NMDAR encephalitis initially presented with fever and psychiatric symptoms. After an initial attack of anti-NMDAR encephalitis, 2 atypical relapses occurred, which presented with myelitis and multifocal white matter lesions; the lesions were open-ring-shaped and partially enhanced.Analysis of the brain biopsy specimen revealed the presence of demyelinated lesions with discrete borders. Subsequent intravenous methylprednisolone therapy resulted in improvement in the brain lesions. Prednisolone and cyclophosphamide were orally administered thereafter. Clinical progression of the disease paralleled observed changes in the CSF NMDAR antibody titer.The demyelinated lesions observed in this case were similar to lesions found in multiple sclerosis. On the basis of our finding that the clinical progression of the disease and the associated symptoms paralleled changes in the CSF NMDAR antibody titer, we speculate that the lesions formed as a result of anti-NMDAR encephalitis.

A 53-year-old female was admitted to our hospital complaining of disturbance of consciousness and hallucinations. About one year and 5 months ago she had adenocarcinoma of the lung, which was treated with surgery and chemotherapy. Computed tomography and magnetic resonance imaging revealed that her lung cancer had relapsed as caricinomatous meningitis and multiple lung metastases. She was treated with erlotinib, which rapidly resulted in disappearance of her symptoms. She still continues to receive erlotinib therapy without suffering from evident relapse 7 months after the initiation of the treatment.

Akitoshi Takeda1,3, Masashi Nakajima1, Mutsutaka Kobayakawa1, Natsuko Tsuruya1, Shin-ichi Koyama1,2, Takami Miki3, Mitsuru Kawamura1,41Department of Neurology, Showa University School of Medicine, Tokyo, Japan; 2Faculty of Engineering, Chiba University, Chiba, Japan; 3Department of Geriatric Medicine and Neurology, Osaka City University Graduate School of Medicine, Osaka, Japan; 4Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Agency (JST), Saitama, JapanBackground: To investigate whether Japanese multiple sclerosis (MS) patients with minor brain lesion loads have attention deficits and brain atrophy, and to correlate their circumstance.Method: Twenty-one Japanese patients with relapsing-remitting MS were included in this study. Attention deficits were evaluated using Clinical Assessment for Attention (CAT) standardized according to age groups. Lesion load in the brain was assessed by tallying the total volume of plaques visible on brain magnetic resonance imaging (MRI). The width of the third ventricle and the bicaudate ratio were measured.Results: The completion time for the visual cancellation tasks and/or the reaction times for the continuous performance test were prolonged in 14 patients (66.7%). The accuracy of responses was preserved throughout the CAT. Deviation from the normal value was not exaggerated based on the increasing difficulty of the task. The total volume of plaques on brain MRI was small. The width of the third ventricle was significantly increased in patients with MS when compared to controls, but was not correlated with the low performance on the CAT.Conclusions: Japanese MS patients with minor brain lesion loads frequently had attention deficits characterized by slowness of automatic information processing, but controlled processing that requires working memory demands was spared.Keywords: attention, cognitive function, magnetic resonance imaging, multiple sclerosis

A 25-year-old homosexual man presented with influenza-like symptoms, followed by acute transient leukoencephalomyelitis as an initial presentation of human immunodeficiency virus infection, suggestive of acute disseminated encephalomyelitis. Magnetic resonance imaging showed hyperintensity in the bilateral periventricular white matter and internal capsules on T2-weighted images, as well as an obscured boundary of the basal ganglia, which have been reported for the first time in primary human immunodeficiency virus infection.

In order to investigate the cognitive and neurological bases of social cognitive impairment in myotonic dystrophy type 1 (DM1), we examined the facial expression recognition abilities and the cerebral lesions in a group of DM 1 (5 men, 4 women). We measured sensitivity to facial emotions and compared the findings with magnetic resonance image (MRI) findings evaluated using a semi-quantitative method. The DM1 patients showed lower sensitivity to disgusted and angry faces as compared to the healthy controls. The assessment of brain lesions revealed that more severe lesions occurred in the frontal, temporal, and insular white matters. Sensitivity to the emotion of disgust was negatively correlated with temporal lesions, and sensitivity to anger negatively correlated with frontal, temporal, and insular lesions. The results of this study indicate an association between lesions in the frontal, temporal, and insular subcortices and decreased emotional sensitivity to disgust and anger in DM1 patients. These areas are thought to play an important role in emotional processing in the normal brain. Our results suggest that social cognitive impairment in DM1 patients is attributable to impaired emotional processing linked to white matter lesions.

It has been noted that patients with myotonic dystrophy type 1 (DM 1) exhibit social cognitive impairment. However, the mechanisms of social cognitive functions in DM 1 have not been well examined. We investigated the recognition of facial expressions in patients with DM 1. Four DM 1 patients participated in the experiment. The sensitivity of basic emotions in patients with DM 1 was measured and compared with MRI and SPECT findings. DM 1 patients showed lower sensitivity to fearful, disgusted, and angry faces. DM 1 patients showed lesions in the anterior temporal white matter, the amygdala, the insular, and the orbitofrontal cortex. The sensitivity to facial expressions was decreased in the patients with marked lesions in the anterior temporal area. Patients with relatively mild anterior temporal lesions did not show a significant decrease in sensitivity to facial emotions. The present results indicate subcortical lesions in anterior temporal areas, including the amygdala, the insular, and the orbitofrontal cortex, in some DM 1 patients. Given that the limbic system, including the amygdala, plays an important role in emotional processing, social cognitive impairment in patients with DM 1 could be associated with decreased sensitivity to facial expressions caused by limbic lesions.

Background It has been observed that patients with myotonic dystrophy type 1 (DM1) exhibit social-cognitive impairment. However, the cognitive and neurological bases of the social-cognitive impairment in DM1 have not been adequately investigated. Methods We studied cognitive deficits and impairment in facial expression recognition in two DM1 patients (one man and one woman). We measured the sensitivity of these patients to basic emotions and compared the results with those from magnetic resonance imaging and single photon emission computed tomography. Results The DM1 patients showed lower sensitivity to fearful, disgusted, and angry faces than did the healthy controls. They also had lesions in the anterior temporal white matter, the amygdala, and the insular and orbitofrontal cortices. Conclusion The results of this study revealed that the DM1 patients had subcortical lesions in the anterior temporal areas, including the amygdala and the insular and orbitofrontal cortices. The limbic system, which includes these areas of the brain, plays an important role in emotional processing. Hence, the social-cognitive impairment in DM1 patients could be associated with a decreased sensitivity to facial expressions owing to lesions in the limbic system.

The patient was a 69-year-old woman without history of dementia who developed meningoencephalitis with initial signs of headache and disturbance of consciousness. In this time any abnormal lesions were admitted. Five weeks later, she developed bleeding from the right parietal lobe and underwent surgical removal of hematoma and brain biopsy at another hospital. The pathological specimen revealed beta-amyloid (Abeta) deposition in the pial vascular wall, perivascular invasion of multinucleated giant cells and lymphocytes, and the presence of numerous microinfarcts in the brain parenchyma. In response to pulsed steroid therapy, transient and slight improvement of level of consciousness was noted, but she died of pneumonia 12 weeks after disease onset. On post-mortem examination, widespread multinucleated giant cell granulomatous angiitis accompanied by Abeta deposition was found extensively even in the sacral cord. In addition, groups of tau-positive degenerated nerve processes without Abeta deposition were found scattered in the cerebral cortex.

The prevalence of cognitive impairment is about 40-65% in patients with multiple sclerosis (MS). Cognitive decline appears in MS in the early stages of the disease including clinically isolated syndrome and radiologically isolated syndrome. Cognitive impairments in patients with MS influence their social functioning and employment. Various domains of cognitive function, including processing speed/working memory, long-term memory, word retrieval, visuospatial processing, and executive function are affected in patients with MS. The Brief Repeatable Battery of Neuropsychological Tests (BRB-N) in MS and the Minimal Assessment of Cognitive Function in MS (MACFIMS) are commonly utilized to assess cognitive function in patients with MS. Neuropsychological assessments are important in MS to predict prognosis and cognitive outcome in treatment trials.