Spectrin-associated autosomal recessive cerebellar ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: SPARCA1
SCAR14
CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1
SPARCA
Autosomal recessive cerebellar ataxia - cognitive defect
Autosomal recessive spinocerebellar ataxia type 14
Spectrin-associated autosomal recessive cerebellar ataxia type 1
Number of Symptoms 19
OrphanetNr: 352403
OMIM Id: 615386
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000496) Abnormality of eye movement 79 / 7739
2
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
 (HPO:0000571) Hypometric saccades rare [HPO:skoehler] 10 / 7739
4
 (HPO:0008003) Jerky ocular pursuit movements rare [HPO:skoehler] 4 / 7739
5
 (HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
6
 (HPO:0000750) Delayed speech and language development 197 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
9
 (HPO:0002267) Exaggerated startle response 42 / 7739
10
 (HPO:0002066) Gait ataxia 327 / 7739
11
 (HPO:0002080) Intention tremor 44 / 7739
12
 (HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
13
 (HPO:0001310) Dysmetria 76 / 7739
14
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (HPO:0001272) Cerebellar atrophy 197 / 7739
17
 (HPO:0003593) Infantile onset 249 / 7739
18
 (HPO:0003677) Slow progression 134 / 7739
19
 (OMIM) Cognitive impairment, mild to moderate 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive spinocerebellar ataxia-14 is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability (summary by Lise et al., 2012).
Clinical Description OMIM Lise et al. (2012) reported a consanguineous Pakistani family in which 3 individuals had early-onset cerebellar ataxia and cognitive impairment. The patients showed severely delayed motor development and achieved walking with support around age 7 years. Physical examination ...
Molecular genetics OMIM In 3 patients from a consanguineous Pakistani family with autosomal recessive spinocerebellar ataxia-14, Lise et al. (2012) identified a homozygous truncating mutation in the SPTBN2 gene (C627X; 604985.0004). The mutation was found by targeted capture of known ataxia ...