Autosomal recessive cerebellar ataxia - saccadic intrusion

General Information (adopted from Orphanet):

Synonyms, Signs: SPINOCEREBELLAR ATAXIA 24, FORMERLY
SPINOCEREBELLAR ATAXIA WITH SACCADIC INTRUSIONS
SCA24, FORMERLY
SCAR4
SCASI
Number of Symptoms 19
OrphanetNr: 95434
OMIM Id: 607317
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0007338) Hypermetric saccades 5 / 7739
2
 (HPO:0001336) Myoclonus 115 / 7739
3
 (HPO:0003487) Babinski sign 179 / 7739
4
 (HPO:0002066) Gait ataxia 327 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
7
 (HPO:0001347) Hyperreflexia 363 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
10
 (HPO:0002380) Fasciculations 42 / 7739
11
 (HPO:0001761) Pes cavus 225 / 7739
12
 (OMIM) Difficulty reading 2 / 7739
13
 (OMIM) Increased velocity of larger saccades 1 / 7739
14
 (OMIM) Macrosaccadic oscillations 1 / 7739
15
 (OMIM) Overshooting horizontal saccades 1 / 7739
16
 (OMIM) Axonal sensorimotor neuropathy 6 / 7739
17
 (HPO:0003581) Adult onset 117 / 7739
18
 (OMIM) Impaired distal sensation of all modalities 3 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Swartz et al. (2002) reported a family of Slovenian descent in which 5 of 14 sibs presented with progressive ataxia beginning in the third decade with gait unsteadiness and difficulty reading. All patients eventually showed gait, trunk, and ...