Spinocerebellar ataxia type 29

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR VERMIS APLASIA
CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT
APLASIA OF CEREBELLAR VERMIS
ACV
SCA29
CNPCA
Congenital nonprogressive spinocerebellar ataxia
Number of Symptoms 19
OrphanetNr: 208513
OMIM Id: 117360
ICD-10: G11
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0100543) Cognitive impairment 230 / 7739
3
 (HPO:0002080) Intention tremor 44 / 7739
4
 (HPO:0002070) Limb ataxia 41 / 7739
5
 (HPO:0001310) Dysmetria 76 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0002470) Nonprogressive cerebellar ataxia 4 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0002136) Broad-based gait 30 / 7739
10
 (HPO:0001270) Motor delay 322 / 7739
11
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
12
 (HPO:0006855) Cerebellar vermis atrophy 8 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (OMIM) Atrophy of the cerebellar vermis seen on MRI 1 / 7739
15
 (HPO:0003577) Congenital onset 133 / 7739
16
 (MedDRA:10053694) Saccadic eye movement 2 / 7739
17
 (HPO:0003812) Phenotypic variability 129 / 7739
18
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
19
 (OMIM) Cognitive impairment, mild 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy ...
Clinical Description OMIM Tomiwa et al. (1987) reported affected mother and daughter with nonprogressive congenital cerebellar ataxia and normal intelligence. Computed tomography revealed localized atrophy of the cerebellar vermis. Kattah et al. (1983) described a family in which 5 members had ...
Molecular genetics OMIM By exome sequencing of a member of the family with SCA29 reported by Dudding et al. (2004), Huang et al. (2012) identified a heterozygous mutation in the ITPR1 gene (V1553M; 147265.0003). The mutation was confirmed by Sanger sequencing ...