Spinocerebellar ataxia type 35

General Information (adopted from Orphanet):

Synonyms, Signs: SCA35
Number of Symptoms 18
OrphanetNr: 276193
OMIM Id: 613908
ICD-10: G11.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[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:0000467) Neck muscle weakness 29 / 7739
2
(HPO:0000473) Torticollis 42 / 7739
3
(HPO:0000315) Abnormality of the orbital region 18 / 7739
4
(HPO:0001260) Dysarthria 329 / 7739
5
(HPO:0001251) Ataxia 413 / 7739
6
(HPO:0002311) Incoordination 84 / 7739
7
(HPO:0002355) Difficulty walking 61 / 7739
8
(HPO:0001310) Dysmetria 76 / 7739
9
(HPO:0002080) Intention tremor 44 / 7739
10
(HPO:0001347) Hyperreflexia 363 / 7739
11
(HPO:0003487) Babinski sign 179 / 7739
12
(HPO:0001272) Cerebellar atrophy 197 / 7739
13
(HPO:0003581) Adult onset 117 / 7739
14
(OMIM) Brain MRI shows cerebellar atrophy 2 / 7739
15
(MedDRA:10063534) Ocular dysmetria 3 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(HPO:0003677) Slow progression 134 / 7739
18
(OMIM) Saccadic slowing (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. Upper limb involvement and torticollis commonly occurs. There is no cognitive impairment (Wang et al., 2010).
Clinical Description OMIM Wang et al. (2010) reported a 4-generation Chinese family in which 9 individuals developed spinocerebellar ataxia with a mean age at onset of 43.9 years (range, 40 to 48 years). Early features included walking difficulty, ataxia, and cerebellar ...
Molecular genetics OMIM By exome sequencing of affected members of a large Chinese family with SCA35, Wang et al. (2010) identified a heterozygous mutation in the TGM6 gene (L517W; 613900.0001). A second unrelated Chinese family with SCA35 was found to carry ...