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Article
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6)
SCA6 is an autosomal dominant spinocerebellar ataxia (SCA) caused by a small CAG repeat expansion of the gene encoding an α-1a-voltage-dependent Ca channel gene subunit on chromosome 19p13. A Japanese woman with...
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Article
Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2
Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of unstable CAG repeats within the coding region of the novel gene, ataxin-2, on chromosome 12q24.1. We analyzed CAG repeat size of the SCA2 allele in ...
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Article
Incidence of idiopathic intracranial hypertension in Hokkaido, the northern-most island in Japan
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Article
Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA)
We clinically and genetically studied three patients in a family with dentatorubro-pallidoluysian atrophy (DRPLA). The proband patient had 58/24 CAG repeat alleles of the DRPLA gene (normal ≤ 34 repeats). Cer...
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Article
Open AccessAn examination of the Apo-1/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis
The Apo-1/Fas (CD95) molecule is an apoptosis-signaling cell surface receptor belonging to the tumor necrosis factor (TNF) receptor family. Both Fas and Fas ligand (FasL) are expressed in activated mature T ce...
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Article
Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6)
To investigate the frequency of positioning nystagmus in degenerative ataxic disorders, we examined downbeat positioning nystagmus (DPN) in 25 patients with spinocerebellar ataxia type 6 (SCA6) and 58 patient...
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Article
Multiphasic demyelinating disorder with acute transverse myelitis in Japanese
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Article
Serum melatonin levels and insomnia in patients with Machado-Joseph Disease
We previously reported a patient with Machado-Joseph Disease (MJD) who had severe insomnia and a low serum melatonin (MLT) level, and whose insomnia was alleviated by oral MLT replacement therapy. The aims of ...
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Article
No association between FMR1 premutations and multiple system atrophy
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Article
Treatment of cerebellar ataxia with 5-HT1A agonist
Effective, pharmacologic approaches to the treatment of cerebellar ataxia are lacking or inadequate. We recently reported preliminary evidence that tandospirone citrate (tandospirone), a 5-HT1A agonist, improv...
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Article
Four mutations of the spastin gene in Japanese families with spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower limbs. HSP is caused by failure ...
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Article
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families
Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders. To shed further light on the clinical and genetic spectrum of ADCA in Japan, we conducted a stud...
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Article
Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family
Clinical examinations and mutational analyses were carried out in three patients of a Japanese familial hemiplegic migraine (FHM) pedigree. Each affected member demonstrated a broad clinical spectrum that incl...
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Article
Dissociation between the severity of cerebrospinal fluid hypovolemia and MRI findings
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Article
Extramedullary plasmacytoma involving perirenal space accompanied by extramedullary hematopoiesis and amyloid deposition
A 62-year-old man was referred to us after unsuccessful treatment of bilateral weakness in his upper and lower extremities with paresthesia in both lower extremities. Computed tomography (CT) revealed soft tis...
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Article
Progressive anterior operculum syndrome due to FTLD-TDP: a clinico-pathological investigation
Pathological investigation of progressive anterior operculum syndrome has rarely been reported. We describe clinico-pathological findings in a patient with progressive anterior operculum syndrome. A 74-year-ol...
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Article
Writing errors as a result of frontal dysfunction in Japanese patients with amyotrophic lateral sclerosis
Loss of communication is a critical problem for advanced amyotrophic lateral sclerosis (ALS) patients. This loss of communication is mainly caused by severe dysarthria and disability of the dominant hand. Howe...
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Article
FDG-PET SUV can distinguish between spinal sarcoidosis and myelopathy with canal stenosis
Spinal cord sarcoidosis is a rare manifestation of sarcoidosis. Magnetic resonance imaging (MRI) of spinal cord sarcoidosis sometimes resembles that of the non-inflammatory spinal cord lesion. 18F-fluorodeoxygluc...
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Article
Open AccessCopy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
Multiple system atrophy (MSA) is a sporadic disease. Its pathogenesis may involve multiple genetic and nongenetic factors, but its etiology remains largely unknown. We hypothesized that the genome of a patient...
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Article
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism
Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia a...
