Spinocerebellar ataxia type 27

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, FGF14-RELATED
SCA27
Number of Symptoms 30
OrphanetNr: 98764
OMIM Id: 609307
ICD-10: G11
UMLs: C1836383
MeSH: C537204
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
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:0000640) Gaze-evoked nystagmus 12/14 [HPO] 12489043 IBIS 27 / 7739
2
 (HPO:0007772) Impaired smooth pursuit 21 / 7739
3
 (HPO:0000486) Strabismus 576 / 7739
4
 (HPO:0000641) Dysmetric saccades 10 / 7739
5
 (HPO:0000617) Abnormality of ocular smooth pursuit 6 / 7739
6
 (HPO:0002346) Head tremor 9 / 7739
7
 (HPO:0002310) Orofacial dyskinesia 8/14 [HPO] 16211615 IBIS 10 / 7739
8
 (HPO:0001260) Dysarthria 11/14 [HPO] 16211615 IBIS 329 / 7739
9
 (HPO:0002070) Limb ataxia 12/14 [HPO] 16211615 IBIS 41 / 7739
10
 (HPO:0002354) Memory impairment 63 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0000716) Depression 2/14 [HPO] 12489043 IBIS 99 / 7739
13
 (HPO:0003390) Sensory axonal neuropathy 26 / 7739
14
 (HPO:0001256) Intellectual disability, mild 141 / 7739
15
 (HPO:0002066) Gait ataxia 11/14 [HPO] 16211615 IBIS 327 / 7739
16
 (HPO:0002495) Impaired vibratory sensation 9/14 [HPO] 16211615 IBIS 26 / 7739
17
 (HPO:0002174) Postural tremor 12/14 [HPO] 16211615 IBIS 22 / 7739
18
 (HPO:0002078) Truncal ataxia 41 / 7739
19
 (HPO:0001761) Pes cavus 3/17 [HPO] 19471976 IBIS 225 / 7739
20
 (OMIM) Head tremor, mild 1 / 7739
21
 (OMIM) Poor cognition 1 / 7739
22
 (OMIM) Tremor, small-amplitude, high-frequency, restricted to the hands 1 / 7739
23
 (OMIM) Red-blind color blindness (reported in 1 patient) 1 / 7739
24
 (MedDRA:10004153) Basal ganglion degeneration 2 / 7739
25
 (OMIM) Sensory axonal neuropathy, mild 1 / 7739
26
 (OMIM) Aggressive outbursts 3 / 7739
27
 (HPO:0001272) Cerebellar atrophy 2/9 [HPO] 16211615 IBIS 197 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (OMIM) Tremor is exacerbated by stress and exercise 1 / 7739
30
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Swieten et al. (2003) reported a large 3-generation Dutch family in which 14 members had cerebellar ataxia inherited in an autosomal dominant pattern. Since childhood, all patients had trembling of both hands, which was exacerbated by emotional ...
Molecular genetics OMIM In affected members of a large Dutch family with early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia, van Swieten et al. (2003) identified a heterozygous mutation in the FGF14 gene (601515.0001). Other SCA loci were excluded, including that ...