Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the <i>CCDC88C</i> Gene

Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the <i>CCDC88C</i> Gene

Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the <i>CCDC88C</i> gene. Most reported cases of SCA40 are characterized by late-onset cerebellar ataxia and variable extrapyramidal...

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Bibliographic Details
Main Authors: Fanni Annamária Boros, László Szpisjak, Renáta Bozó, Evelyn Kelemen, Dénes Zádori, András Salamon, Judit Danis, Tibor Kalmár, Zoltán Maróti, Mária Judit Molnár, Péter Klivényi, Márta Széll, Éva Ádám
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
SCA40
CCDC88C mutation
JNK pathway
apoptosis
ataxia
Online Access:https://www.mdpi.com/1422-0067/24/3/2617

Internet

https://www.mdpi.com/1422-0067/24/3/2617

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