Spinocerebellar ataxia type 11 (SCA11): An update.
Eur J Neurosci
; 58(2): 2623-2640, 2023 07.
Article
en En
| MEDLINE
| ID: mdl-37329117
ABSTRACT
Spinocerebellar ataxias, also called autosomal dominant cerebellar ataxias, are a group of neurological genetic diseases characterised by chronic, progressive cerebellar ataxia. The clinical hallmark of spinocerebellar ataxia is the loss of balance and coordination, accompanied by slurred speech. Spinocerebellar ataxia type 11 is a rare subtype of spinocerebellar ataxia caused by mutations in the tau tubulin kinase 2 gene. Patients with spinocerebellar ataxia are clinically characterised by slowly progressive cerebellar ataxia, trunk and limb ataxia, and eye movement abnormalities with occasional pyramidal features. Peripheral neuropathy and dystonia are rare. According to the literature, only nine families affected with spinocerebellar ataxia have been reported worldwide. Herein, a series of spinocerebellar ataxia cases are discussed in detail to determine the potential research direction of this dysfunction, including its epidemiology, clinical features, genetic characteristics, diagnosis and differential diagnosis, pathogenic mechanisms, treatment, prognosis, follow-up, genetic counselling and future perspectives, and to improve the overall understanding of spinocerebellar ataxia among clinicians, researchers and patients.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Degeneraciones Espinocerebelosas
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Ataxia Cerebelosa
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Ataxias Espinocerebelosas
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Enfermedades del Sistema Nervioso
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Eur J Neurosci
Asunto de la revista:
NEUROLOGIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
China