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Objectives A pre-possible multiple system atrophy (MSA) phase, that is, the period between symptom onset and satisfying the second consensus diagnostic criteria for possible or probable MSA, may exist. The aim of the study was to identify the pre-possible MSA phase and to pursue the earlier diagnosis of MSA. Materials & methods We reviewed 52 patients with a clinical diagnosis of MSA and 430 patients showing any signs of parkinsonism, sporadic cerebellar ataxia, or autonomic failure with other clinical diagnoses. Results The pre-possible MSA phase was noted in 35 patients with a clinical diagnosis of MSA and 13 patients with other clinical diagnoses. During this phase, 16 patients presented with autonomic features first, while they presented later in 32 patients. Between these patients, there was no significant difference regarding parkinsonian, cerebellar features, levodopa response, or Babinski sign with hyperreflexia. Comparisons by autonomic features or autonomic function tests could not be performed due to the small number of patients. "Atrophy on magnetic resonance imaging of the putamen, middle cerebellar peduncle, pons, or cerebellum" and "new or increased snoring" showed high positive predictive values for MSA. Conclusion A pre-possible MSA phase exists. Improved earlier diagnosis of MSA depends on the sensitivity and positive predictive value of autonomic features or autonomic function tests and on the sensitivity of "atrophy on magnetic resonance imaging of the putamen, middle cerebellar peduncle, pons, or cerebellum" and "new or increased snoring" during the pre-possible MSA phase.

Background and Aim Early clinical diagnosis of progressive supranuclear palsy (PSP) remains challenging. Aim We attempted to identify any sign or symptom to diagnose PSP earlier. Methods A total of 401 patients, 40 with PSP and 361 with other neurodegenerative disorders, were included. We followed these patients for at least 1 year since 2009. We reviewed the signs and symptoms of patients with PSP in a standardized manner, and observed four manifestations: “vertical supranuclear gaze abnormality,” “movement disorders,” “pseudobulbar palsy” and “dementia of frontal type.” Features, such as symmetric parkinsonism, freezing of gait, postural instability, dysarthria and/or dysphagia, or dementia of frontal type, were considered core clinical features. Results In patients with PSP, “movement disorders” was the most common manifestation, whereas “vertical supranuclear gaze abnormality” was uncommon during the early disease course. A total of 16 patients fulfilled the National Institute for Neurological Disorders and Stroke and Society for PSP criteria for possible PSP at their first clinic visit. Of the remaining 24 patients, 15 presented with one or more core clinical features before fulfilling the criteria for possible PSP; nine patients had a clinical diagnosis of PSP but never fulfilled the criteria. A total of 49 of the 361 patients with other neurodegenerative disorders had core clinical features. A comparison showed that freezing of gait differentiated the groups the best over the disease course. Conclusion Freezing of gait is an early feature that might improve the clinical diagnosis of PSP, whereas vertical supranuclear gaze abnormality is not.

Objective To identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc). Methods We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc. In addition, we investigated the distribution of VPS13A gene mutations and clinical symptoms in a total of 39 molecularly diagnosed Japanese patients with ChAc, including 22 previously reported cases. Results We identified 11 novel pathogenic mutations, including 1 novel CNV. Excluding 5 patients with the unknown symptoms, 97.1% of patients displayed various neuropsychiatric symptoms or forms of cognitive dysfunction during the course of disease. The patients carrying the 2 major mutations representing over half of the mutations, exon 60–61 deletion and exon 37 c.4411C>T (R1471X), were localized in western Japan. Conclusions We identified 13 different mutations in VPS13A, including 11 novel mutations, and verified the clinical manifestations in 39 Japanese patients with ChAc.

The aim of the present study was to compare the efficacy of magnetic resonance imaging (MRI) and 123I-labeled 2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl)nortropane single photon emission computed tomography (123I-FP-CIT SPECT) for determining the clinical severity of patients with multiple system atrophy with Parkinsonism (MSA-P). MRI and 123I-FP-CIT SPECT images from 17 patients with MSA-P as diagnosed using the Unified MSA Rating Scale part IV (UMSARS IV) score were compared. Brain MRI scans were available for all 17 patients and 123I-FP-CIT SPECT images were available for 12 patients. Putaminal atrophy (PA), hyperintense putaminal rim (HPR), hyperintense pons (hot cross bun sign, HCB), atrophy of the cerebellar vermis and hemisphere (cerebellar atrophy, CA) and other abnormalities were evaluated in the MRI scans. Distribution of striatal uptake (SU) and the specific binding ratio (SBR) on each side of the bilateral striatum were evaluated using 123I-FP-CIT SPECT images. No significant associations were observed between HPR, HCB, CA and UMSARS IV score. However, the frequency of PA increased significantly with higher UMSARS IV score (P

The aim of the present study was to compare the efficacy of magnetic resonance imaging (MRI) and 123I-labeled 2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl)nortropane single photon emission computed tomography (123I-FP-CIT SPECT) for determining the clinical severity of patients with multiple system atrophy with Parkinsonism (MSA-P). MRI and 123I-FP-CIT SPECT images from 17 patients with MSA-P as diagnosed using the Unified MSA Rating Scale part IV (UMSARS IV) score were compared. Brain MRI scans were available for all 17 patients and 123I-FP-CIT SPECT images were available for 12 patients. Putaminal atrophy (PA), hyperintense putaminal rim (HPR), hyperintense pons (hot cross bun sign, HCB), atrophy of the cerebellar vermis and hemisphere (cerebellar atrophy, CA) and other abnormalities were evaluated in the MRI scans. Distribution of striatal uptake (SU) and the specific binding ratio (SBR) on each side of the bilateral striatum were evaluated using 123I-FP-CIT SPECT images. No significant associations were observed between HPR, HCB, CA and UMSARS IV score. However, the frequency of PA increased significantly with higher UMSARS IV score (P

International audience; Objective : Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case–control series.Methods : We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 European, and 172 North American) and 1509 control subjects (900 Japanese, 315 European, and 294 North American). We focused solely on Gaucher-disease-causing GBA variants.Results : In the Japanese series, we found nine carriers among the MSA patients (1.65%) and eight carriers among the control subjects (0.89%). In the European series, we found three carriers among the MSA patients (1.35%) and two carriers among the control subjects (0.63%). In the North American series, we found five carriers among the MSA patients (2.91%) and one carrier among the control subjects (0.34%). Subjecting each series to a Mantel–Haenszel analysis yielded a pooled odds ratio (OR) of 2.44 (95% confidence interval [CI], 1.14–5.21) and a P-value of 0.029 without evidence of significant heterogeneity. Logistic regression analysis yielded similar results, with an adjusted OR of 2.43 (95% CI 1.15–5.37) and a P-value of 0.022. Subtype analysis showed that Gaucher-disease-causing GBA variants are significantly associated with MSA cerebellar subtype (MSA-C) patients (P = 7.3 × 10−3).Interpretation : The findings indicate that, as in PD and DLB, Gaucher-disease-causing GBA variants are associated with MSA.

ObjectiveTo identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc).MethodsWe performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc. In addition, we investigated the distribution of VPS13A gene mutations and clinical symptoms in a total of 39 molecularly diagnosed Japanese patients with ChAc, including 22 previously reported cases.ResultsWe identified 11 novel pathogenic mutations, including 1 novel CNV. Excluding 5 patients with the unknown symptoms, 97.1% of patients displayed various neuropsychiatric symptoms or forms of cognitive dysfunction during the course of disease. The patients carrying the 2 major mutations representing over half of the mutations, exon 60–61 deletion and exon 37 c.4411C>T (R1471X), were localized in western Japan.ConclusionsWe identified 13 different mutations in VPS13A, including 11 novel mutations, and verified the clinical manifestations in 39 Japanese patients with ChAc.

We describe a 48-year-old female with an isolated unilateral hypoglossal nerve palsy caused by a skull base metastasis from breast cancer. The patient had a medical history of conservative breast therapy for breast cancer. Although the cause of such a neurological deficit includes various pathologies, the reports focusing on metastatic tumor have been limited in number. Radiologic investigation showed a mass involving both the right hypoglossal canal and the clival edge. Swelling of the hypoglossal nerve was observed in views including its canal. Three-dimensional CT images demonstrated the tumor protruding from the enlarged external orifice of the hypoglossal canal. In the present report we mentioned a nuclear medicine procedure to visualize and characterize the small, abnormal tissue in the skull base. Dual-isotope SPECT confirmed an abnormal uptake of 99mTc-HMDP around the hypoglossal canal and a 201Tl-positive elongated lesion running along the hypoglossal nerve.

脳梗塞急性期における昇圧ならびに降圧の減少が一種の代償性機構であるとの仮説のもとに, 脳梗塞急性期の血圧の推移と神経学的重症度との関連を検討した.対象は急性期脳梗塞患者65例 (男 : 女=33 : 32, 平均年齢68。5±12.2歳) で, 各々につき神経学的重症度の評価, 随時血圧及び24時間血圧の測定と, 血小板凝集能及び交感神経機能の指標としてβ-TGの測定を行った.脳梗塞急性期において, 夜間降圧度の減少と神経学的重症度との間には有意の相関があり, また日単位の降圧度と神経学的重症度の間にも有意の相関が認められた.以上の事実より, 脳梗塞急性期の昇圧ならびに降圧の減少は交感神経系の興奮を介した代償性機序である可能性が示唆された.

AIMS To evaluate whether thoracic aortic plaques together with dyslipidaemia are related to ischaemic stroke, and if so, to which of the subtypes of stroke. METHODS AND RESULTS We performed transoesophageal echocardiography in 50 patients with acute ischaemic stroke and in 401 controls. The aorta was divided into two segments: (1) the proximal, proximal to the left subclavian artery, and (2) the distal aorta. Protruding plaques (Intima > or =4 mm in thickness) in the proximal aorta were detected in 14 of the 50 patients (28%) with stroke, and in 53 of the 401 controls (13%) (P

To examine the clinical implications of post-stroke hypertension, defined as the rise in blood pressure on admission after the onset of ischemic stroke as compared with the blood pressure before stroke, and to assess the relationship between the value of post-stroke hypertension and neurologic recovery, we retrospectively studied 28 patients admitted to the hospital within 24h (mean±SD, 6.7±7.0h) after a firstever, acute non-embolic ischemic stroke, whose blood pressure had been recorded at the outpatient clinic within 3 mo before stroke. The Canadian Neurological Scale was used to assess stroke severity, and neurologic recovery during the acute phase was calculated. The average duration of hospitalization was 18±9d. The value of post-stroke hypertension and stroke severity on admission independently and significantly correlated with neurologic recovery (odds ratio, 1.06; 95% confidence interval, 1.00-1.12 and odd ratio, 0.20; 95% confidence interval, 0.06-0.72, respectively). There was also a significant linear correlation between the value of post-stroke hypertension and neurologic recovery (r= 0.50, p

Background and Purpose Postural hypotension, which occurs frequently in community-living, apparently healthy elderly adults, is usually asymptomatic. However, the relation between postural changes in blood pressure and quantitative higher cerebral function or silent brain lesions remains unclear. We examined the association of exaggerated postural changes in systolic blood pressure with cognitive and quantitative neurobehavioral functions and with brain lesions on MRI in the community-dwelling older elderly. Methods The study population consisted of 334 community-dwelling elderly adults, aged 75 years or older (mean age, 80 years). Postural changes in systolic blood pressure (SBP) were assessed using an autosphygmomanometer (BP-203 I). By the difference between the mean of two measurements of SBP at standing and at supine position (dSBP=SBP at upright−SBP at supine position), we divided the subjects into three groups: (1) 20 subjects with postural hypotension (d-SBP ≦−20 mm Hg), (2) 29 subjects with postural hypertension (dSBP ≧20 mm Hg), and (3) 285 subjects with postural normotension (20 Results Twenty subjects (6.0%) exhibited postural hypotension and 29 (8.7%) postural hypertension. Scores in neurobehavioral functions and activities of daily living were significantly lower in the postural dysregulation group (both postural hypotension and hypertension groups) than in the postural normotension group. The postural dysregulation group exhibited significantly more advanced periventricular hyperintensities than the normotension group. Conclusions Asymptomatic community-dwelling elderly individuals with postural hypotension as well as those with postural hypertension had poorer scores on neurobehavioral function tests and more advanced leukoaraiosis demonstrated on MRI than those without exaggerated postural changes in SBP.

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