Anti-metabotropic glutamate receptor type 1 (mGluR1) antibody-associated cerebellar ataxia is a rare autoimmune cerebellar ataxia. Although its clinical spectrum has been recognized mainly from Western cohorts, its features in other populations remain uncharacterized. We investigated the clinical characteristics of thi...
N. Yoshikura, Akio Kimura, Akira Takekoshi et al.· Cerebellum· 0 citations
Misfolded TAR DNA-binding protein 43 (TDP-43) is the primary pathological hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). While seed amplification assays (SAAs), such as real-time quaking-induced conversion (RT-QuIC), have shown promise in detecting misfolded TDP-43 in cere...
K. Satoh, M. Shimamura, Takeshi Fujimoto et al.· Current Issues in Molecular...· 0 citations
The relatively high p.Arg207* allele frequency in East Asians and the 0.97% prevalence in the undiagnosed ataxia cohort support SCAR32 as an important cause of early-onset autosomal recessive cerebellar ataxia in Japan.
Hiromi Fukuda, Hiroshi Doi, Shunsuke Ogata et al.· Journal of Human Genetics· 0 citations
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