Publications by authors named "Cheng-Ta Chou"
Investigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort.
Ann Clin Transl Neurol
January 2025
Objective: The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom. This study aims to investigate the role of ITM2B variations in a Taiwanese cohort with unsolved cerebellar ataxia.
View Article and Find Full Text PDFPAR3/INSC/LGN form an evolutionarily conserved complex required for asymmetric cell division in the developing brain, but its post-developmental function and disease relevance in the peripheral nervous system (PNS) remains unknown. We mapped a new locus for axonal Charcot-Marie-Tooth disease (CMT2) and identified a missense mutation c.209 T > G (p.
View Article and Find Full Text PDFNeuronal intranuclear inclusion disease (NIID), caused by an expansion of GGC repeats in the 5'-untranslated region of NOTCH2NLC, is an important but underdiagnosed cause of adult-onset leukoencephalopathies. The present study aimed to investigate the prevalence, clinical spectrum and brain MRI characteristics of NIID in adult-onset nonvascular leukoencephalopathies and assess the diagnostic performance of neuroimaging features. One hundred and sixty-one unrelated Taiwanese patients with genetically undetermined nonvascular leukoencephalopathies were screened for the NOTCH2NLC GGC repeat expansions using fragment analysis, repeat-primed PCR, Southern blot analysis and/or nanopore sequencing with Cas9-mediated enrichment.
View Article and Find Full Text PDFInvestigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Parkinsonism Relat Disord
November 2021
Article Synopsis
- Adrenoleukodystrophy (ALD) is an X-linked disorder linked to ABCD1 gene mutations, which can present similar symptoms to hereditary spastic paraplegia (HSP), prompting this study on Taiwanese patients with HSP-like features.
- The research analyzed 230 Taiwanese patients for ABCD1 mutations, identifying ten different mutations in eleven male patients, including two novel ones, with patients showing a range of non-motor symptoms and neurological deficits.
- The findings suggest that ABCD1 mutations are present in 4.8% of patients with HSP phenotype in Taiwan, emphasizing the need to check for these mutations in unexplained HSP cases.
Objectives: To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan.
Methods: Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was ascertained by the presence of biallelic CYP7B1 mutations.
Background: The sortilin-related receptor 1 (SORL1) gene, regulating the trafficking and recycling of amyloid precursor protein, has been related to Alzheimer's disease (AD) and mild cognitive impairment (MCI). The aim of the present study was to investigate the relationship between SORL1 polymorphisms, plasma concentrations of amyloid-beta (Aβ) isoforms, and AD and MCI susceptibility for a Han Chinese population in Taiwan.
Methods: Eight single-nucleotide polymorphisms (SNPs) in SORL1 and the apolipoprotein E gene (APOE) ε4 alleles were genotyped in 798 patients with AD, 157 patients with MCI, and 401 control subjects.
Background: Charcot Marie Tooth disease type 1A (CMT1A) is the most commonly inherited demyelinating polyneuropathy with variable phenotypes, affected by several comorbidities, especially diabetes mellitus (DM). Previous studies showed that DM exacerbates the clinical manifestations of CMT1A.
Patients And Methods: We retrospectively evaluated patients with CMT1A in our hospital, and identified three groups among 12 cases, which comprised four patients with CMT1A, four with CMT1A+DM, and four with DM.