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Spinocerebellar ataxia type 31(SCA31)

MedGen UID:
348439
Concept ID:
C1861736
Disease or Syndrome
Synonyms: SCA31; Spinocerebellar ataxia 16q22-linked
SNOMED CT: Spinocerebellar ataxia type 31 (715826005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): BEAN1 (16q21)
 
Monarch Initiative: MONDO:0007296
OMIM®: 117210
Orphanet: ORPHA217012

Definition

Spinocerebellar ataxia type 31 (SCA31) is an adult-onset autosomal dominant neurodegenerative disorder showing progressive cerebellar ataxia mainly affecting Purkinje cells (summary by Sato et al., 2009). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). See also SCA4 with sensory axonal neuropathy (600223), which also maps to chromosome 16q, but has a different phenotype. [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Gaze-evoked horizontal nystagmus
MedGen UID:
377895
Concept ID:
C1853394
Finding
Horizontal nystagmus made apparent by looking to the right or to the left.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 31
Follow this link to review classifications for Spinocerebellar ataxia type 31 in Orphanet.

Professional guidelines

PubMed

Finsterer J
Rev Neurol (Paris) 2023 Mar;179(3):173-182. Epub 2022 Nov 10 doi: 10.1016/j.neurol.2022.09.004. PMID: 36371266

Recent clinical studies

Prognosis

Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L
J Neurol Sci 2023 Jan 15;444:120527. Epub 2022 Dec 16 doi: 10.1016/j.jns.2022.120527. PMID: 36563608
Nakamura K, Yoshida K, Matsushima A, Shimizu Y, Sato S, Yahikozawa H, Ohara S, Yazawa M, Ushiyama M, Sato M, Morita H, Inoue A, Ikeda SI
Cerebellum 2017 Apr;16(2):518-524. doi: 10.1007/s12311-016-0833-6. PMID: 27830516

Clinical prediction guides

Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L
J Neurol Sci 2023 Jan 15;444:120527. Epub 2022 Dec 16 doi: 10.1016/j.jns.2022.120527. PMID: 36563608
Nakamura K, Yoshida K, Matsushima A, Shimizu Y, Sato S, Yahikozawa H, Ohara S, Yazawa M, Ushiyama M, Sato M, Morita H, Inoue A, Ikeda SI
Cerebellum 2017 Apr;16(2):518-524. doi: 10.1007/s12311-016-0833-6. PMID: 27830516
Adachi T, Kitayama M, Nakano T, Adachi Y, Kato S, Nakashima K
Neuropathology 2015 Jun;35(3):273-9. Epub 2014 Dec 11 doi: 10.1111/neup.12184. PMID: 25495291
Yoshida K, Asakawa M, Suzuki-Kouyama E, Tabata K, Shintaku M, Ikeda S, Oyanagi K
Neuropathology 2014 Jun;34(3):261-7. Epub 2013 Dec 17 doi: 10.1111/neup.12090. PMID: 24344778Free PMC Article
Ishige T, Sawai S, Itoga S, Sato K, Utsuno E, Beppu M, Kanai K, Nishimura M, Matsushita K, Kuwabara S, Nomura F
J Hum Genet 2012 Dec;57(12):807-8. Epub 2012 Sep 20 doi: 10.1038/jhg.2012.112. PMID: 22992774

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