Spinocerebellar ataxia de typo 4
| Spinocerebellar ataxia de typo 4 |
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| instantia de: developmental defect during embryogenesis[*], classe de maladias[*] |
| subclasse de: spinocerebellar ataxia[*], autosomal dominant cerebellar ataxia type I[*] |
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Le spinocerebellar ataxia de typo 4 (SCA4) es un forma multo rar de autosomal dominante spinocerebellar ataxia progressive affectante familias originari de Svedia.[1]
Se characterisa per sensori e autonomic neuropathia inter 15 e 60 annos.
Es causate per le expansion de repetitiones de -GGC- exonal sequences codificante polyglycina in ZFHX3 (en) gene.[2]
Referentias
[modificar fonte]- ↑ https://www.orpha.net/en/disease/detail/98765
- ↑ Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldö M, Arvidsson A, Persson S, Englund E, Ehrencrona H & Puschmann A. (2024-01-04). "Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.". Am J Hum Genet. 111 (1): 82-9. doi:..