COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA

General Information (adopted from Orphanet):

Synonyms, Signs: CIAT
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614306
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000609) Optic nerve hypoplasia rare [HPO:skoehler] 26 / 7739
2
(HPO:0000646) Amblyopia rare [HPO:skoehler] 42 / 7739
3
(HPO:0000640) Gaze-evoked nystagmus rare [HPO:skoehler] 27 / 7739
4
(HPO:0000486) Strabismus 576 / 7739
5
(HPO:0001251) Ataxia 413 / 7739
6
(HPO:0002066) Gait ataxia 327 / 7739
7
(HPO:0100543) Cognitive impairment 230 / 7739
8
(HPO:0001260) Dysarthria rare [HPO:skoehler] 329 / 7739
9
(HPO:0002311) Incoordination 84 / 7739
10
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
11
(HPO:0002200) Pseudobulbar signs 15 / 7739
12
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
13
(HPO:0000712) Emotional lability rare [HPO:skoehler] 44 / 7739
14
(HPO:0001310) Dysmetria rare [HPO:skoehler] 76 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Brain MRI shows cerebellar atrophy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Trudeau et al. (2006) reported a family of Swedish and Norwegian origin with highly variable neurologic deficits. The proband was a 9-year-old boy with markedly delayed psychomotor development, attention deficit disorder, and cerebellar ataxia. Features included ataxic wide-based ...
Molecular genetics OMIM Because SCN8A is widely expressed in neurons of the central and peripheral nervous systems, and because mutations in the mouse ortholog result in ataxia and other movement disorders, Trudeau et al. (2006) screened the 26 coding exons of ...