Spinocerebellar ataxia type 23

General Information (adopted from Orphanet):

Synonyms, Signs: SCA23
Number of Symptoms 25
OrphanetNr: 101108
OMIM Id: 610245
ICD-10: G11
UMLs: C1853250
MeSH: C537201
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 families [Orphanet]
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:0000514) Slow saccadic eye movements 21 / 7739
2
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
3
 (HPO:0001260) Dysarthria 329 / 7739
4
 (HPO:0002070) Limb ataxia 41 / 7739
5
 (HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
6
 (HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
7
 (HPO:0001310) Dysmetria 76 / 7739
8
 (HPO:0001347) Hyperreflexia 363 / 7739
9
 (HPO:0002066) Gait ataxia 327 / 7739
10
 (HPO:0003487) Babinski sign 179 / 7739
11
 (OMIM) Neuronal loss in the inferior olives 1 / 7739
12
 (HPO:0001272) Cerebellar atrophy 197 / 7739
13
 (OMIM) Cortical and subcortical atrophy (1 patient) 1 / 7739
14
 (HPO:0003677) Slow progression 134 / 7739
15
 (OMIM) Demyelination of the posterior and lateral columns of the spinal cord 1 / 7739
16
 (OMIM) Neuronal loss in the Purkinje cell layer of the cerebellar vermis 1 / 7739
17
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
18
 (OMIM) Mixed axonal polyneuropathy 1 / 7739
19
 (MedDRA:10063534) Ocular dysmetria 3 / 7739
20
 (HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Thinning of the cerebellopontine tracts 1 / 7739
23
 (OMIM) Neuronal loss in the dentate nuclei 1 / 7739
24
 (HPO:0007305) CNS demyelination 21 / 7739
25
 (OMIM) Mild cognitive decline (1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010).

For a general discussion of autosomal ...
Clinical Description OMIM Verbeek et al. (2004) reported a Dutch family with autosomal dominant late-onset spinocerebellar ataxia affecting at least 13 members spanning 3 generations. In the 5 affected family members who were examined, age at onset ranged from 43 to ...
Molecular genetics OMIM In affected members of the family with SCA23 reported by Verbeek et al. (2004), Bakalkin et al. (2010) identified a heterozygous mutation in the PDYN gene (R138S; 131340.0001). Screening of 1,100 additional Dutch ataxia patients revealed 3 more ...
Population genetics OMIM Schicks et al. (2011) did not identify mutations in the PDYN gene in 104 German families with autosomal dominant SCA who were negative for common SCA-causing repeat expansions and SCA-associated mutations in other genes, suggesting that SCA23 is ...