U.S. flag

An official website of the United States government


Send to:

Choose Destination

Spinocerebellar ataxia type 37(SCA37)

MedGen UID:
Concept ID:
Disease or Syndrome
SNOMED CT: Spinocerebellar ataxia type 37 (719301002); Spinocerebellar ataxia with altered vertical eye movement (719301002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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): DAB1 (1p32.2-32.1)
Monarch Initiative: MONDO:0014410
OMIM®: 615945
Orphanet: ORPHA363710

Disease characteristics

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 37
Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular and slow vertical smooth pursuit, slow vertical optokinetic nystagmus, and oscillopsia (visual disturbance in which objects appear to oscillate). In most individuals, the initial signs/symptoms include falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. A distinctive clinical feature is the presence of altered vertical eye movements in early stages of the disease, even preceding ataxia symptoms. Clinical progression is slow and affected individuals usually become wheelchair bound between ten and 33 years after disease onset. [from GeneReviews]
Antoni Matilla-Dueñas  |  Victor Volpini   view full author information

Additional description

Spinocerebellar ataxia-37 (SCA37) is an autosomal dominant neurologic disorder characterized by adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging (summary by Seixas et al., 2017). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).  http://www.omim.org/entry/615945

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
Difficulty in swallowing.
Cerebellar ataxia
MedGen UID:
Concept ID:
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).
MedGen UID:
Concept ID:
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.
MedGen UID:
Concept ID:
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Unsteady gait
MedGen UID:
Concept ID:
A shaky or wobbly manner of walking.
Cerebellar atrophy
MedGen UID:
Concept ID:
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.
Frequent falls
MedGen UID:
Concept ID:
MedGen UID:
Concept ID:
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 37

Professional guidelines


Mongelli A, Sarro L, Rizzo E, Nanetti L, Meucci N, Pezzoli G, Goldwurm S, Taroni F, Mariotti C, Gellera C
Neurosci Lett 2018 Jun 21;678:37-42. Epub 2018 Apr 30 doi: 10.1016/j.neulet.2018.04.044. PMID: 29715545
Zhou YX, Wang GX, Tang BS, Li WD, Wang DA, Lee HS, Sambuughin N, Zhou LS, Tsuji S, Yang BX, Goldfarb LG
Neurology 1998 Aug;51(2):595-8. doi: 10.1212/wnl.51.2.595. PMID: 9710044

Recent clinical studies


Loureiro JR, Oliveira CL, Mota C, Castro AF, Costa C, Loureiro JL, Coutinho P, Martins S, Sequeiros J, Silveira I
Hum Mutat 2019 Apr;40(4):404-412. Epub 2019 Jan 9 doi: 10.1002/humu.23704. PMID: 30588707
Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A
Brain 2018 Jul 1;141(7):1981-1997. doi: 10.1093/brain/awy137. PMID: 29939198


Loureiro JR, Oliveira CL, Sequeiros J, Silveira I
J Hum Genet 2018 Sep;63(9):981-987. Epub 2018 Jun 11 doi: 10.1038/s10038-018-0474-3. PMID: 29891931

Clinical prediction guides

Cen Z, Jiang Z, Chen Y, Zheng X, Xie F, Yang X, Lu X, Ouyang Z, Wu H, Chen S, Yin H, Qiu X, Wang S, Ding M, Tang Y, Yu F, Li C, Wang T, Ishiura H, Tsuji S, Jiao C, Liu C, Xiao J, Luo W
Brain 2018 Aug 1;141(8):2280-2288. doi: 10.1093/brain/awy160. PMID: 29939203

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...