Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Preferred Label : Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;

Symbol : SCAN2;

CISMeF acronym : SCAN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ataxia-ocular apraxia 2; Ataxia-oculomotor apraxia 2; AOA2; Spinocerebellar ataxia, autosomal recessive 1; SCAR1;

Description : Ataxia-oculomotor apraxia-2 (AOA2) is a form of autosomal recessive cerebellar ataxia, a clinically and genetically heterogeneous group of neurodegenerative disorders (Moreira et al., 2004). However, because oculomotor apraxia is only an occasional feature of AOA2, Koenig (2001) urged that it not be referred to as a form of AOA. Duquette et al. (2005) also emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 (607250). The disorder is designated here as autosomal recessive spinocerebellar ataxia 1 (SCAR1), since oculomotor apraxia is an inconsistent finding.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the senataxin gene (SETX, 608465.0001);

Laboratory abnormalities : Increased serum alpha-fetoprotein; Increased serum gamma-globulin; Increased serum creatine kinase (less common);

Prefixed ID : #606002;

Détails

Origin ID

606002;

UMLS CUI

C1853761;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive ataxia, Beauce type [ORDO Disease]
- SETX wt Allele [NCIt concept]
- Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 [NCIt concept]
- senataxin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive ataxia with oculomotor apraxia type 2 [ICD-11 More detail]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 1 [MeSH concept]
- ataxia with oculomotor apraxia type 2 [Disease (Nov.)]
- ataxia with oculomotor apraxia type 2 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]
DO Cross reference
- ataxia with oculomotor apraxia type 2 [DO Concept]
Genes related to phenotype
- Senataxin [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Chorea [HPO term]
- Chronic axonal neuropathy [HPO term]
- Conjunctival telangiectasia [HPO term]
- Decreased distal touch sense [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Elevated alpha-fetoprotein [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Head tremor [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal tactile sensation [HPO term]
- Impaired distal vibration sensation [HPO term]
- Impaired proprioception [HPO term]
- Increased circulating antibody level [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Polyneuropathy [HPO term]
- Pontocerebellar atrophy [HPO term]
- Progressive [HPO term]
- Progressive gait ataxia [HPO term]
- Reduced tendon reflexes [HPO term]
- Saccadic smooth pursuit [HPO term]
- Scoliosis [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive ataxia with oculomotor apraxia type 2 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 [NCIt concept]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 1 [MeSH concept]
- ataxia with oculomotor apraxia type 2 [DO Concept]
- ataxia with oculomotor apraxia type 2 [Disease (Nov.)]
- recessive non-Friedreich spinocerebellar ataxia type 1 [Disease (Nov.)]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]

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