Results 21 to 30 of about 125,979 (217)

New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia [PDF]

Journal of Movement Disorders, 2021
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA).
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth   +3 more
doaj   +1 more source

Involvement of the Peripheral Nervous System in Episodic Ataxias

Biomedicines, 2020
Episodic ataxias comprise a group of inherited disorders, which have a common hallmark—transient attacks of ataxia. The genetic background is heterogeneous and the causative genes are not always identified.
Wojciech Koźmiński, Joanna Pera
doaj   +1 more source

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

Frontiers in Neurology, 2021
Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for the pore-forming subunit of the neuronal calcium channel P/Q.
Elisabetta Indelicato, Sylvia Boesch
doaj   +1 more source

Therapy of episodic ataxias: case report and review of the literature

Drugs in Context, 2019
Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal ...
Daniele Orsucci, Laura Maria Raglione, Monica Mazzoni, Marco Vista   +3 more
doaj   +1 more source

Ataxia episódica não familiar possivelmente associada com o uso de nicotina: relato de caso Non-familial episodic ataxia possibly associated with the use of nicotine: case report

Arquivos de Neuro-Psiquiatria, 2000
O autor relata um caso clínico de ataxia episódica não familiar responsiva a acetazolamida, semelhante clinicamente a ataxia episódica tipo 2 (EA-2), no qual a nicotina pode representar ser um possível fator na gênese dos episódios atáxicos.The author ...
ANDERSON KUNTZ GRZESIUK
doaj   +1 more source

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1 [PDF]

, 2010
Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene encoding the fast K(+) channel subunit K(v)1.1. Episodic ataxia type 1 presents with brief episodes of cerebellar dysfunction and persistent neuromyotonia and is ...
Tan, S Veronica, S. Veronica Tan, Dimitri M. Kullmann, Robert C. Griggs, Michael G. Hanna, Bostock, Hugh, Susan E. Tomlinson, Tomlinson, Susan E, David Burke, Hanna, Michael G, Kullmann, Dimitri M, Burke, David, Hugh Bostock, Griggs, Robert C   +13 more
core   +2 more sources

Treatable Ataxias: How to Find the Needle in the Haystack? [PDF]

Journal of Movement Disorders, 2022
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular ...
Albert Stezin, Pramod Kumar Pal
doaj   +1 more source

Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies

Epilepsy and Behavior Case Reports, 2019
PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines.We describe a patient with compound heterozygous variants, infantile epilepsy with status ...
Christelle Moufawad El Achkar, Beth Rosen Sheidley, Declan O'Rourke, Masanori Takeoka, Annapurna Poduri   +4 more
doaj   +1 more source

Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. [PDF]

PLoS ONE, 2017
Familial episodic ataxia of lambs is a congenital transient autosomal dominant disorder of newborn lambs, with varying expressivity. Affected lambs show episodes of an asymmetric ataxic gait, base-wide extensor hypertonia of the thoracic limbs and flexor
K E Dittmer, R D Jolly, I G Mayhew, A L Ridler, A Chernyavtseva, D J Garrick, H T Blair   +6 more
doaj   +1 more source

Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A

Radiology Case Reports, 2021
Pathogenic CACNA1A gene variants are associated with a spectrum of disorders including migraine with or without hemiplegia, ataxia, epilepsy, and developmental disability.
Chang Y. Ho, MD, Harrison L. Love, MSIV, Deborah K. Sokol, MD, Laurence E. Walsh, MD   +3 more
doaj   +1 more source