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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.
 
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]
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.
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.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
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.
Frequent falls
MedGen UID:
163408
Concept ID:
C0850703
Finding
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.

Term Hierarchy

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

Professional guidelines

PubMed

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: 38396267Free PMC Article

Recent clinical studies

Etiology

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

Diagnosis

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: 38396267Free PMC Article
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

Prognosis

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: 38396267Free PMC Article

Clinical prediction guides

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: 38396267Free PMC Article
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

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