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Spinocerebellar ataxia type 37(SCA37)

MedGen UID:: 855217
•Concept ID:: C3889636
•: Disease or Syndrome

Synonyms:	SCA37; SPINOCEREBELLAR ATAXIA 37
SNOMED CT:	Spinocerebellar ataxia type 37 (719301002); Spinocerebellar ataxia with altered vertical eye movement (719301002)
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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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]

Authors:
Antoni Matilla-Dueñas | Victor Volpini view full author information

Additional description

From OMIM
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

Dysphagia

MedGen UID:: 41440
•Concept ID:: C0011168
•: Disease or Syndrome

Difficulty in swallowing.

See: Feature record | Search on this feature

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).

See: Feature record | Search on this feature

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.

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Tremor

MedGen UID:: 21635
•Concept ID:: C0040822
•: Sign or Symptom

An unintentional, oscillating to-and-fro muscle movement about a joint axis.

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Unsteady gait

MedGen UID:: 68544
•Concept ID:: C0231686
•: Finding

A shaky or wobbly manner of walking.

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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.

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Frequent falls

MedGen UID:: 163408
•Concept ID:: C0850703
•: Finding

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of the digestive system
- Dysphagia
Abnormality of the eye
- Nystagmus
Abnormality of the musculoskeletal system
- Frequent falls
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSpinocerebellar ataxia type 37

Autosomal dominant cerebellar ataxia type I
- Spinocerebellar ataxia type 37

Professional guidelines

PubMed

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)(n) insertion in spinocerebellar ataxia type 37.

Sanchez-Flores M, Corral-Juan M, Gasch-Navalón E, Cirillo D, Sanchez I, Matilla-Dueñas A
Hum Genet 2024 Mar;143(3):211-232. Epub 2024 Feb 23 doi: 10.1007/s00439-024-02644-7. PMID: 38396267 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Mutational mechanism for DAB1 (ATTTC)(n) insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.

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

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.

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

See all (2)

Diagnosis

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)(n) insertion in spinocerebellar ataxia type 37.

A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.

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

See all (2)

Prognosis

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)(n) insertion in spinocerebellar ataxia type 37.

See all (1)

Clinical prediction guides

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)(n) insertion in spinocerebellar ataxia type 37.

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.

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

See all (2)

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Spinocerebellar ataxia type 37(SCA37)

Disease characteristics

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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Genetic Testing Registry

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