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The authors describe a case of primary progressive multifocal leukoencephalopathy (pPML). Unlike previous similar reports, our patient underwent up-to-date and extensive in vivo and post-mortem investigations that established beyond doubt the competence of his immune system and the absence of underlying predisposing disorders. The various implications of this case, both clinical and related to the possible pathogenetic mechanisms of JC virus infection, are discussed.

Mitsuyama variant in the association ALS-dementia. We report a case characterized by the association of an early-onset, rapidly progressive and severe dementia with the subsequent appearance of a motoneuron disease (bulbar ALS). The neuropsychological evaluation showed a global cognitive impairment, with a more profound impairment of executive, linguistic and mnestic functions, as in fronto-temporal dementia. SPECT and PET investigations demonstrated a bilateral reduction of blood perfusion and glucose metabolism in the frontal and temporal lobes. Brain MRI showed a diffuse cortical atrophy, more pronounced at the level of the frontal lobes. The characteristics of the present case are in agreement with the clinical variant first described by Mytsuyama in eastern patients. However, our case differs for the extremely rapid onset and progression of cognitive decline and this could suggest that the complexity of the association between fronto-temporal dementia and ALS is even more heterogeneous than reported up-to-date.

A 68-year-old man presented with a 4-month history of progressive memory loss and mood disorders. Neurologic examination revealed severe impairment of attention and verbal skills, without motor and sensory deficits. His medical history included mild arterial hypertension, idiopathic partial epilepsy, and obsessive compulsive disorder. Brain MRI showed the presence of bilateral, asymmetric, swollen white matter lesions in the cerebral hemispheres, hyperintense in T2-weighted images, that partially involved the left frontal cortex (figure). On diffusion-weighted sequences, the white matter abnormalities were consistent with vasogenic edema. No pathologic contrast enhancement was present. Figure MRI of cerebral amyloid angiopathy–related inflammation (CAA-ri) and levels of anti-Aβ 1-40 and 1-42 autoantibodies in the CSF Axial fluid-attenuated inversion recovery brain MRI shows bilateral hyperintense lesions of the subcortical white matter (A), which are reduced after 20 days of steroid treatment (B). Axial T2*-weighted gradient-echo MRI (C) obtained 33 days later shows further reduction of white matter lesions and multiple, scattered, hypointense cortical lesions due to microhemorrhages (arrows). (D) Reiber's graph. X- and y-axes show, respectively, albumin (QAlb) and immunoglobulin G quotient (QIgG), obtained by the ratio between the level of the protein in the CSF from the first lumbar puncture and in the plasma. The QAlb indicates the permeability of the blood–brain barrier (BBB) to water-soluble molecules. The QIgG (total IgG including specific anti-Aβ autoantibodies) plotted into the graph discriminates between intrathecal production of IgG and …

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is often related to the A3243G mutation of the mitochondrial DNA, accounting for about 80% of typical cases, with a relevant phenotypic variability. Hemorrhagic strokes are quite unusual in these patients. A case of recurrent brain hematomas has been reported in a MELAS patient carrying the G13513A mutation, with clinical onset at age 31 [1]. Another fatal case of intracerebral hemorrhage was reported in a MERRF/MELAS overlap syndrome due to a T8356C mutation [2]. Finally, a putaminal hemorrhagic stroke was described in a MERRF patient carrying the A8344G mutation, with clinical onset at age 26 [3]. Here, we report the case of a 37-year-old male arriving to our attention because of a two-week history of headache associated with nausea, vomiting, and dizziness. A brain MRI scan showed a left hemispheric cerebellar hemorrhage at a stage compatible with the onset of the symptoms. The patient neither had history of arterial hypertension, any hemorrhagic risk-factor, diabetes, nor was taking any medication. A few years before, he was found to be asymptomatic carrier of the A3243G mitochondrial DNA mutation (heteroplasmy confirmed on a blood sample), since a MELAS diagnosis was made on his younger brother expressing a typical phenotype. On current examination, our patient presented slight left ataxic hemiparesis and hypoesthesia. A cerebral angiography failed to show any vascular abnormality. Since our patient was carrier of a MELAS mutation, we decided to assess its putative clinical burden. An EEG showed generalized electrogenetic dysfunction with a single generalized epileptic spike discharge; EMG suggested slight myopathic signs; mild perceptive bilateral deafness was also present. A venous lactic acid test with compression of the right arm was significant (baseline values 2.9 mmol/L; increase up to 7.5 mmol/L after 3 min; NV 0.44–2.22 mmol/L). No hearth conduction defects were present. A week later, on a control CT scan, progressive blood reabsorption was noted and basal ganglia calcifications were not observed; the headache had improved and the neurological examination was normal. Iizuka et al. [4] demonstrated cortical laminar necrosis and focal HMPAO SPET hyperperfusion during subacute stages of stroke-like episodes; moreover, they reported several cases of microhemorrhages and at least one case of intracortical gyral hemorrhage, suggesting that stroke-like episodes are characterized by increased capillary permeability and focal hyperemia [5]. Consistently, vasogenic edema has been reported during stroke-like episodes [6]. Anyhow, in our case, the aspect of the lesion does not suggest the hemorrhagic transformation of a stroke-like episode; this also considering that the hematoma was confined in a specific vascular territory, which is not a characteristic of stroke-like episodes [4]. Conversely, we cannot exclude a hemorrhagic coincidental event in a patient carrying the A3243G mutation with a subclinical MELAS phenotype. However, mitochondrial angiopathy in E. Saracchi L. Tremolizzo J. C. DiFrancesco L. Brighina G. Costantino B. Frigeni M. Brioschi M. L. Piatti L. Fumagalli L. Marzorati N. A. Curto C. Ferrarese Department of Neurology, S. Gerardo Hospital, Monza, Italy

The SCA17 clinical phenotype includes characteristics associated with cerebellar and cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. Here we describe the case of a 38-year-old male presenting with ataxia, cognitive impairment and seizures, who was found to carry 43 repeats on one allele of the TATA-binding protein (TBP) gene. Therefore, genetic analysis of TBP gene triplets was performed on the patient’s entire family, identifying three asymptomatic carriers of the same allele. A neuroradiological phenotype appeared to segregate with this allele, suggesting that it may play at least a contributory role in the determination of SCA17.

Here we report a case of steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT), a rare neurological condition characterised by acute or subacute onset of cognitive impairment, psychiatric disorders, seizures, myoclonus and cerebrovascular accidents,1 2 in a male patient with Graves’ disease (GD), who relapsed after steroid treatment but promptly responded to total thyroidectomy. In January 2007, a 55-year-old man came to our attention with a 2 week history of confusion, memory loss and gait impairment. Tremor, weight loss and palpitations were also reported. On admission, the patient presented with spontaneous and stimulus induced myoclonic jerks and ataxia; physical examination revealed mild goitre. His past medical history included hyperlipidaemia, peripheral obliterating arteriopathy, recurrent tension-type headache and nephrolithiasis. In 1998 the patient was found to be affected by hyperthyroidism and treatment with methimazole 10 mg twice daily was started, subsequently tapered to 5 mg once a day. Ultrasound scan of the thyroid gland was suggestive of GD. In 2000 and 2006, two relapses of hyperthyroidism were reported, and methimazole 10 mg twice daily was reintroduced. In November 2006, symptoms of iatrogenic hypothyroidism appeared: methimazole was suspended and thyroxine 25 μg twice weekly was …

The typical adult-onset form of Huntington's disease (HD) is a clinical condition in which the latest advances of genetic research can be usefully applied during the course of the diagnostic process; not so clear are the guidelines for the much less frequent late-onset variant. We have recently seen three patients in their late sixties who had been misdiagnosed for up to 10 years due to the apparently isolated, mild, and slowly progressive nature of their hyperkinetic movements or cognitive disorders. Only after the results of DNA sequencing on a blood sample became available could the appropriate diagnosis of late-onset HD be reached. By contrast, neuroimaging studies lacked sufficient sensitivity and specificity. Appropriate neurogeriatric assessment in these cases should follow specific guidelines and should always include selected high-technology procedures.

An atypical case of peripheral nervous system (PNS) involvement in Sjogren's syndrome is presented in a 63 year-old woman. Symptoms of an entrapment neuropathy were the first manifestation of the systemic disease and they were subsequently coupled to those of a mononeuritis multiplex. Clinical and laboratory signs for the diagnosis of Sjogren's syndrome became subsequently overt. The mononeuritis multiplex remained clinically limited to the upper limbs and characterized by unusually severe motor symptoms which progressed up to the development of a final complete deplegia. By contrast, sensory symptoms at the upper limbs remained mild over the entire course of the disease and the lower limbs revealed a subclinical sensory-motor damage only during the late stage.