Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.

Alexander disease (AxD) is a rare neurodegenerative disorder. Most patients with AxD have a de novo dominant missense mutation in the glial fibrillary acidic protein (GFAP) gene. Patients with late-onset AxD exhibit a more variable onset and severity than patients with early-onset AxD, suggesting the existence of factors that modify the clinical phenotype of late-onset AxD.

Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology.

Clinical phenotype of individuals with spinocerebellar ataxia 2 (SCA2) is characterised by cerebellar ataxia and cognitive impairment. Although L-dopa-responsive Parkinsonism is considered as a rare clinical presentation in SCA2, it has been brought to the attention of many neurologists in several studies. The authors report an autopsy case of SCA2 with Parkinsonism from a Japanese family using archival materials of our Brain Bank to describe unique neuropathologic findings.

CpG demethylation enhances alpha-synuclein expression and affects the pathogenesis of Parkinson's disease.

Background: Alpha-synuclein (SNCA) gene expression is an important factor in the pathogenesis of Parkinson's disease (PD). Gene multiplication can cause inherited PD, and promoter polymorphisms that increase SNCA expression are associated with sporadic PD. CpG methylation in the promoter region may also influence SNCA expression.

[Autopsy case of SCA2 with Parkinsonian phenotype].

This is the first autopsy case of SCA2 with parkinsonian phenotype. At the age of 46, the patient got symptoms of parkinsonism to which anti-parkinsonian drugs were effective. He had mosaic 38, 40 CAG repeat expansions on chromosome 12q23-24, being diagnosed as SCA2, and his mother and his son also had CAG expansions on the same locus.

[Case of opticospinal multiple sclerosis showing phenotype change to conventional type induced by interferon beta-1b].

A 57-year-old woman who had severe opticospinal multiple sclerosis (OSMS) was admitted to our hospital. She had presented with visual loss and gait disturbance at the age of 48, and had since experienced more than 10 relapses and been hospitalized 9 times. Interferon beta-lb treatment (8,000,000 units on alternate days) had been started at her last admission.

[Transcortical sensory aphasia due to extensive infarction of left cerebral hemisphere].

We report a case of transcortical sensory aphasia occurred after extensive infarction of left cerebral hemisphere. A 68-year-old, right-handed man with atrial fibrillation suddenly developed cerebral embolism of left middle cerebral artery. He was treated conservatively, and the right hemiplegia, aphasia, apraxia in a slight degree and right hemispatial neglect in a slight degree consequently existed.

[Parkinson disease with dementia--responsible locus for dementia].

Responsible locus for dementia in Parkinson disease (PD) was investigated. Serial 1,395 autopsy cases were studied for the combined pathology of PD and Alzheimer disease (AD). Following the one-year rule by the first Consensus Guidelines, definite AD pathology was quite rare in PD with dementia (PDD) but common in dementia with Lewy bodies (DLB) .

[An autopsy case of multiple system atrophy with a heteroallelic ceruloplasmin gene mutation].

We reported a 69-year-old woman with multiple system atrophy (MSA), who had a heteroallelic missense mutation (G1874A, Gly-->Glu) in the exon 11 of the ceruloplasmin (Cp) gene. At the age of 64, she began to complain of progressive gait disturbance, which was resistant to anti-Parkinsonian drug treatment. Neurological examination revealed parkinsonism such as rigidity, akinesia, mild tremor and postural instability, accompanying saccadic eye movement, dysarthria, dysphagia, orthostatic hypotension and bladder disturbance.

[Multiple system atrophy with a-/hypo-ceruloplasminemia: distribution of iron in brains of 2 autopsy cases].

Objective: We presented first two cases of multiple system atrophy (MSA) with a-/hypo-ceruloplasminemia (hypo-Cp). To know whether hypo-Cp was a cause of MSA, we investigated distribution of iron in brains.

Methods: Investigating history, neurological sings and symptoms, neuroimagings, and neuropathological findings of the 2 cases, we demonstrate that these 2 cases were typical MSA.