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Article
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders ranging from severe neonatal encephalopathy to early-onset spastic paraplegia. We identif...
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Article
Open AccessDystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum
Biallelic mutations in the COA7 gene have been associated with spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3), and a notable clinical diversity has been observed. We aim to identify the genetic and ...
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Article
Open AccessEarly dynamics of chronic myeloid leukemia on nilotinib predicts deep molecular response
Chronic myeloid leukemia (CML) is a myeloproliferative disorder caused by the BCR-ABL1 tyrosine kinase. Although ABL1-specific tyrosine kinase inhibitors (TKIs) including nilotinib have dramatically improved the ...
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Article
Open AccessPrevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
The presence of fragile X mental retardation 1 (FMR1) premutation has been linked to patients with a certain type of cerebellar ataxia, the fragile X-associated tremor/ataxia syndrome (FXTAS). However, its preval...
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Article
Open AccessComplex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently described in the context of mutations in mitochondrial-related nucl...
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Article
Subcellular patch-clamp techniques for single-bouton stimulation and simultaneous pre- and postsynaptic recording at cortical synapses
Rigorous investigation of synaptic transmission requires analysis of unitary synaptic events by simultaneous recording from presynaptic terminals and postsynaptic target neurons. However, this has been achieve...
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Article
Open AccessTranssynaptic modulation of presynaptic short-term plasticity in hippocampal mossy fiber synapses
The hippocampal mossy fiber synapse is a key synapse of the trisynaptic circuit. Post-tetanic potentiation (PTP) is the most powerful form of plasticity at this synaptic connection. It is widely believed that ...
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Article
Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation
We identified the main features of Charcot–Marie–Tooth (CMT) disease, type 4F, caused by a periaxin gene (PRX) mutation in Japanese patients. Periaxin is known as one of the key myelination molecules, forming tig...
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Article
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis
Alexander disease (AxD) is a rare neurodegenerative disorder characterized by white matter degeneration and formation of cytoplasmic inclusions. Glial fibrillary acidic protein (GFAP) mutations have been reported...
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Article
Open AccessA new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy
Axial myopathy is a rare neuromuscular disease that is characterized by paraspinal muscle atrophy and abnormal posture, most notably camptocormia (also known as bent spine). The genetic cause of familial axial...
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Article
Expression profiling of Peroxisome proliferator-activated receptor-delta (PPAR-delta) in mouse tissues using tissue microarray
Peroxisome proliferator-activated receptor-delta (PPAR-delta) is known as a transcription factor involved in the regulation of fatty acid oxidation and mitochondrial biogenesis in several tissues, such as skel...
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Article
The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells
To clarify the functional effects of mutant glial fibrillary acidic protein (GFAP), we examined the expression patterns of mutant GFAPs (V87G, R88C, and R416W) in astrocytoma-derived cells and performed migrat...
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Article
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene
Mutations of selenoprotein N, 1 gene (SEPN1) cause rigid spine with muscular dystrophy type 1 (RSMD1), multiminicore disease, and desmin-related myopathy. We found two novel SEPN1 mutations in two Japanese patien...
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Article
Fine map** of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families
The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. To date, at least 11 genes and 13 additional loci have been identified in ADCAs. Despite phe...
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Critical Fusion Frequency in Amblyopia
Critical fusion frequency (C.F.F.) in different retinal loci were measured in an amblyopic patients with eccentric fixation using a fundus perimeter. At the eccentric fixating retinal locus C.F.F. increased mo...
