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Paraneoplastic anti–N‐methyl‐D‐aspartate receptor encephalitis associated with ovarian teratoma
The autoantigens of a new category of treatment‐responsive paraneoplastic encephalitis are reported, and it is proposed that this category should be combined with existing treatment-responsive encephalopathy categories.
The gene for Machado–Joseph disease maps to human chromosome 14q
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).
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
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.
Physiological properties of projection neurons in the monkey striatum to the globus pallidus
It was concluded that the movement-related activity of type II putamen neurons is transferred to GP and/or SN during voluntary movement but tonically active type I cells do not project to the GP.
Identification of a SACS gene missense mutation in ARSACS
The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).
Identification of GFAP gene mutation in hereditary adult‐onset Alexander's disease
A novel missense mutation of a G‐to‐T transition at nucleotide 841 in the GFAP gene that results in the substitution of arginine for leucine at amino acid residue 276 (R276L) is found, suggesting a common molecular mechanism underlies the three Alexander's disease subtypes.
16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations
Clinical heterogeneity in the patients with EAOH was found, including one insertion and two missense mutations including a novel missense one, which was located at a highly conserved amino acid residue in the aprataxin gene product.
A phenotype without spasticity in sacsin-related ataxia
The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel…
Neural information transferred from the putamen to the globus pallidus during learned movement in the monkey.
- M. Kimura, M. Kato, H. Shimazaki, K. Watanabe, N. Matsumoto
- BiologyJournal of neurophysiology
- 1 December 1996
The physiology of the neuronal projection from the striatum to the external and internal segments of the globus pallidus (GPe and GPi, respectively) in macaque monkeys was studied to answer the following specific questions.