Spinocerebellar ataxia 28

A hereditary autosomal dominant spinocerebellar ataxia with onset typically between 20 and 30 years of age. It is characterized by gait abnormalities; limb ataxia, DYSARTHRIA; slow and lower limb HYPERREFLEXIA; OCULAR MOTILITY DISORDERS; and BLEPHAROPTOSIS. Mutations in the AFG3L2 gene have been identified. OMIM: 610246

Also Known As:

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neurodegenerative Diseases (Neurodegenerative Disease)
2.	Hereditary Spastic Paraplegia

Experts

1.	Amati-Bonneau, Patrizia: 1 article (06/2020)
2.	Bonneau, Dominique: 1 article (06/2020)
3.	Bris, Céline: 1 article (06/2020)
4.	Caporali, Leonardo: 1 article (06/2020)
5.	Carelli, Valerio: 1 article (06/2020)
6.	Charif, Majida: 1 article (06/2020)
7.	Chevrollier, Arnaud: 1 article (06/2020)
8.	Colin, Estelle: 1 article (06/2020)
9.	Defoort-Dhellemmes, Sabine: 1 article (06/2020)
10.	Desquiret-Dumas, Valérie: 1 article (06/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinocerebellar ataxia 28:

1.

m-AAA proteasesIBA 06/01/2020 - "Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. " 01/01/2019 - "Spinocerebellar ataxia 28 is an autosomal dominant neurodegenerative disorder caused by missense mutations affecting the proteolytic domain of AFG3L2, a major component of the mitochondrial m-AAA protease. "