Orphanet: Spinocerebellar ataxia type 28

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Spinocerebellar ataxia type 28

Disease definition

Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

ORPHA:101109

Classification level: Disorder

Synonym(s):
- SCA28
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: G11.1
ICD-11: 8A03.16
OMIM: 610246
UMLS: C1853249
MeSH: C537205
GARD: 9951
MedDRA: -

Summary

Epidemiology

Prevalence is unknown. SCA28 accounts for approximately 1.5% of all European cases of ADCA.

Clinical description

The mean age of symptom onset was 19.5 years in the original kindred. Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported. Patients can walk unassisted until the 7th decade of life. Life-threatening status epilepticus and intractable seizure or severe dysphagia are rare.

Etiology

SCA28 is caused by mutations in the AFG3L2 gene located to chromosome 18p11.21.

Genetic counseling

SCA28 is inherited autosomal dominantly and genetic counseling is possible.

Expert reviewer(s): Dr Shinsuke FUJIOKA - Dr Nathaniel WHALEY - Dr Zbigniew WSZOLEK - Last update: May 2011

A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)

Detailed information

General public

Article for general public
Svenska (2021) - Socialstyrelsen

Disease review articles

Review article
English (2011) - Orphanet J Rare Dis

Clinical genetics review
English (2018) - GeneReviews

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