Autosomal dominant cerebellar ataxia type IV

MedGen UID:: 1842584
•Concept ID:: C5680261
•: Disease or Syndrome

Synonyms:	ADCA4; ADCAIV; Autosomal dominant cerebellar ataxia type 4; autosomal dominant cerebellar ataxia type 4; autosomal dominant cerebellar ataxia type IV
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019794
Orphanet:	ORPHA94149

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant cerebellar ataxia type IV

Autosomal dominant cerebellar ataxia type IV
- Dentatorubral-pallidoluysian atrophy
- Spinocerebellar ataxia type 10

Recent clinical studies

Etiology

The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2.

Lupo M, Olivito G, Iacobacci C, Clausi S, Romano S, Masciullo M, Molinari M, Cercignani M, Bozzali M, Leggio M
Cortex 2018 Nov;108:35-49. Epub 2018 Jul 31 doi: 10.1016/j.cortex.2018.07.011. PMID: 30121445

Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1.

Forsgren L, Libelius R, Holmberg M, von Döbeln U, Wibom R, Heijbel J, Sandgren O, Holmgren G
J Neurol Sci 1996 Dec;144(1-2):91-8. doi: 10.1016/s0022-510x(96)00187-6. PMID: 8994109

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