Results 71 to 80 of about 2,519,053 (161)

Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6

Stem Cell Research, 2020
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant hereditary disease caused by repeated CAG amplification in the CACNA1A gene. There is no specific treatment for SCA6, and the currently administered treatment is mainly symptomatic.
Ting Yang, Jie Qin, Qi Zhang, Huifang Sun, Zhuoya Wang, Jing yang, Han liu, Chan Zhang, Shoutao Zhang, Jin Zhang, Yanlin Wang, Yuming Xu   +11 more
doaj   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Migraine: Epidemiology, Risk Factors, Pathophysiology, and Treatment

MedComm, Volume 7, Issue 9, September 2026.
Migraine is a highly prevalent, female‐predominant, and disabling brain disorder shaped by genetic susceptibility, hormonal influences, modifiable attack factors, and comorbidity‐related progression. This review integrates current evidence on migraine epidemiology, phase‐specific neurovascular and neuroglial mechanisms, including CGRP signaling and ...
Weiwei Lu, Yuan Zhang, Chen Shi, Yu Tao, Shaoxin Li, Yufang Sun, Fuhai Ji, Dongsheng Jiang, Terrance P. Snutch, Jin Tao   +9 more
wiley   +1 more source

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

Frontiers in Neurology
Epilepsy, characterized by recurrent seizures, impacts 70–80% of patients, leading to cognitive deficits. The intricate relationship between seizure control and cognitive impairment remains complex.
Vanessa I. Romero, Samantha Sáenz, Benjamín Arias-Almeida, Daniela DiCapua, Daniela DiCapua, Kazuyoshi Hosomichi   +5 more
doaj   +1 more source

Large-Scale Functional RNAi Screen in Identifies TGF-β and Notch Signaling Pathways as Modifiers of

ASN Neuro, 2016
Variants in CACNA1A that encodes the pore-forming α 1 -subunit of human voltage-gated Cav2.1 (P/Q-type) Ca 2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1, episodic ataxia type 2, and ...
Maria da Conceição Pereira, Sara Morais, Jorge Sequeiros, Isabel Alonso   +3 more
doaj   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2134-2144, September 2026.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Progressive ataxia caused by mutation of CACNA1A (c.3451G > A): a case report

Egyptian Journal of Medical Human Genetics
Background Progressive cerebellar ataxia is a genetically heterogeneous neurological disorder. While mutations in the CACNA1A gene are known to cause various spinocerebellar ataxias, reports of specific point mutations leading to the disease in the ...
Wei Chen, Yangyang Liang, Zhaona Song, Xizi Wang, Yilei Xiao, Juan Zheng   +5 more
doaj   +1 more source

CACNA1A localizes to the lysosomes.

, 2015
A. CACNA1A co-localizes with LAMP1 in primary cerebellar cultures of both CTL and Cacna1atg-la mutants. Scale bars, 20 μm. B. CACNA1A is present as punctae on the Vacuolin-1 enlarged LAMP1 positive lysosomes in primary cerebellar cultures of both CTL and
Upasana Gala (713001), Roy V. Sillitoe (713004), Yongping Zhang (474940), Manish Jaiswal (115384), Hugo J. Bellen (115405), Alberto di Ronza (713003), Xuejun Tian (603758), Lita Duraine (115395), Hector Sandoval (115387), Shinya Yamamoto (115402), Weina Shang (713002), Kartik Venkatachalam (556489), Chao Tong (389167), Sonal Nagarkar Jaiswal (403935), Marco Sardiello (7720), Hengyu Fan (713005)   +15 more
core   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2045-2058, September 2026.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Polyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6

Biology Open, 2016
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that results from abnormal expansion of a polyglutamine (polyQ) repeat. SCA6 is caused by CAG triplet repeat expansion in the gene CACNA1A, resulting in a polyQ tract of 19-33 in ...
Wei-Ling Tsou, Sultan H. Qiblawi, Ryan R. Hosking, Christopher M. Gomez, Sokol V. Todi   +4 more
doaj   +1 more source