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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
TLDR
‘dementia dominant’ and ‘limb weakness’ subtypes are reported, and consideration of NIID in the differential diagnosis of leukoencephalopathy and neuropathy is recommended.
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
TLDR
The hypothesis that the frequencies of normal alleles (ANs) with a relatively large number of CAG repeats (large ANs) are related to the prevalences of the dominant spinocerebellar ataxias (SCAs) is tested and the assumption that large ANs contribute to generation of expanded allels (AEs) is supported.
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
TLDR
A novel strategy, the direct identification of repeat expansion and cloning technique (DIRECT), which allows selective detection of expanded GAG repeats and cloning of the genes involved and will dramatically accelerate the search for causative genes of neuropsychiatric diseases caused by trinucleotide repeat expansions.
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
TLDR
A new gene encoding a member of the histidine triad (HIT) superfamily as the 'causative' gene is identified and called aprataxin; the gene symbol is APTX and it is the first to be linked to a distinct phenotype.
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription
TLDR
Results indicate that interference of transcription by the binding of TAFII130 with expanded polyQ stretches is involved in the pathogenetic mechanisms underlying neurodegeneration.
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
TLDR
It is shown that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME), and RNA toxicity as the mechanism underlying disease pathogenesis is identified.
The gene for Machado–Joseph disease maps to human chromosome 14q
TLDR
The gene for MJD is assigned to the long arm of chromosome 14 (14q24.3–q32) by genetic linkage to microsatellite loci D 14S55 and D14S48 (multipoint lod score Zmax=9.719).
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
TLDR
Long-read sequencing identifies a GGC repeat expansion in NOTCH2NLC that is associated with neuronal intranuclear inclusion disease, a progressive neurodegenerative disorder, and results in abnormal anti-sense transcripts that could contribute to disease pathogenesis.
GFAP mutations, age at onset, and clinical subtypes in Alexander disease
TLDR
The proposed revised AxD subtypes, type I and type II, are proposed, based on analysis of statistically defined patient groups, with clear correlations to defined patterns of phenotypic expression.
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
TLDR
This novel nonsense mutation in C12orf65 could cause AR-HSP with optic atrophy and neuropathy, resulting in a premature stop codon and dysfunction of mitochondrial translation could be one of the pathogenic mechanisms underlying HSPs.
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