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Spinocerebellar ataxia type 23(SCA23)

MedGen UID:
339942
Concept ID:
C1853250
Disease or Syndrome
Synonyms: SCA23; Spinocerebellar Ataxia Type23
SNOMED CT: Spinocerebellar ataxia type 23 (718772002)
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): PDYN (20p13)
 
Monarch Initiative: MONDO:0012449
OMIM®: 610245
Orphanet: ORPHA101108

Definition

Spinocerebellar ataxia-23 (SCA23) is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

Clinical features

From HPO
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.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
CNS demyelination
MedGen UID:
137898
Concept ID:
C0338474
Disease or Syndrome
A loss of myelin from nerve fibers in the central nervous system.
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.
Sensorimotor neuropathy
MedGen UID:
207266
Concept ID:
C1112256
Disease or Syndrome
Impaired vibration sensation in the lower limbs
MedGen UID:
338617
Concept ID:
C1849134
Finding
A decrease in the ability to perceive vibration in the legs.
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Impaired distal proprioception
MedGen UID:
867227
Concept ID:
C4021585
Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.
Dysmetric saccades
MedGen UID:
322908
Concept ID:
C1836392
Finding
The controller signal for saccadic eye movements has two components

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 23
Follow this link to review classifications for Spinocerebellar ataxia type 23 in Orphanet.

Professional guidelines

PubMed

Oliveira JBL, Martinez ARM, França MC Jr
Expert Opin Pharmacother 2022 Oct;23(15):1687-1694. Epub 2022 Oct 19 doi: 10.1080/14656566.2022.2135432. PMID: 36254604
Anheim M, Torres Martin JV, Kolb SA
Cerebellum 2020 Apr;19(2):243-251. doi: 10.1007/s12311-020-01102-0. PMID: 31933160
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG
Cerebellum 2019 Oct;18(5):849-854. doi: 10.1007/s12311-019-01064-y. PMID: 31377949

Recent clinical studies

Etiology

Wu F, Wang X, Li X, Teng H, Tian T, Bai J
J Neurol 2021 Dec;268(12):4630-4645. Epub 2020 Nov 11 doi: 10.1007/s00415-020-10297-5. PMID: 33175256
Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H
J Neurol 2013 Mar;260(3):856-9. Epub 2012 Oct 30 doi: 10.1007/s00415-012-6721-1. PMID: 23108490
Liu YT, Tang BS, Wang JL, Guan WJ, Shen L, Shi YT, Zhou Y, Yan XX, Xia K, Jiang H
Neurosci Lett 2012 Oct 18;528(1):51-4. Epub 2012 Sep 7 doi: 10.1016/j.neulet.2012.08.062. PMID: 22985506

Diagnosis

Wu F, Wang X, Li X, Teng H, Tian T, Bai J
J Neurol 2021 Dec;268(12):4630-4645. Epub 2020 Nov 11 doi: 10.1007/s00415-020-10297-5. PMID: 33175256
Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H
J Neurol 2013 Mar;260(3):856-9. Epub 2012 Oct 30 doi: 10.1007/s00415-012-6721-1. PMID: 23108490

Prognosis

Wu F, Wang X, Li X, Teng H, Tian T, Bai J
J Neurol 2021 Dec;268(12):4630-4645. Epub 2020 Nov 11 doi: 10.1007/s00415-020-10297-5. PMID: 33175256
Verbeek DS
Cerebellum 2009 Jun;8(2):104-7. Epub 2008 Dec 17 doi: 10.1007/s12311-008-0085-1. PMID: 19089525Free PMC Article

Clinical prediction guides

Smeets CJLM, Ma KY, Fisher SE, Verbeek DS
Brain Pathol 2021 Mar;31(2):239-252. Epub 2020 Nov 2 doi: 10.1111/bpa.12905. PMID: 33043513Free PMC Article
Verbeek DS
Cerebellum 2009 Jun;8(2):104-7. Epub 2008 Dec 17 doi: 10.1007/s12311-008-0085-1. PMID: 19089525Free PMC Article

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