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Spinocerebellar ataxia type 10(SCA10)

MedGen UID:
369786
Concept ID:
C1963674
Disease or Syndrome
Synonyms: SCA10; Spinocerebellar Ataxia Type10
SNOMED CT: Spinocerebellar ataxia type 10 (715754007)
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): ATXN10 (22q13.31)
 
Monarch Initiative: MONDO:0011330
OMIM®: 603516
Orphanet: ORPHA98761

Definition

Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Age of onset ranges from 12 to 48 years. [from GeneReviews]

Additional description

From OMIM
The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).  http://www.omim.org/entry/603516

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
Urge incontinence is the strong, sudden need to urinate.
Limb fasciculations
MedGen UID:
381469
Concept ID:
C1854657
Finding
Fasciculations affecting the musculature of the arms and legs.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
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.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Abnormality of extrapyramidal motor function
MedGen UID:
115941
Concept ID:
C0234133
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
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.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Scanning speech
MedGen UID:
116113
Concept ID:
C0240952
Mental or Behavioral Dysfunction
An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Finding
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.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Decreased nerve conduction velocity
MedGen UID:
347509
Concept ID:
C1857640
Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
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.
Impaired smooth pursuit
MedGen UID:
325176
Concept ID:
C1837458
Finding
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 10
Follow this link to review classifications for Spinocerebellar ataxia type 10 in Orphanet.

Professional guidelines

PubMed

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

Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB; PanAmerican Hereditary Ataxia Network
Cerebellum 2020 Jun;19(3):446-458. doi: 10.1007/s12311-020-01109-7. PMID: 32086717
Moro A, Munhoz RP, Camargo CH, Moscovich M, Farah M, Teive HAG
J Clin Neurosci 2020 Jan;71:150-152. Epub 2019 Sep 17 doi: 10.1016/j.jocn.2019.08.097. PMID: 31540857
Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J
Parkinsonism Relat Disord 2019 Sep;66:182-188. Epub 2019 Aug 19 doi: 10.1016/j.parkreldis.2019.08.011. PMID: 31445906
Santos LR, Teive HAG, Lopes Neto FDN, Macedo ACB, Mello NM, Zonta MB
Arq Neuropsiquiatr 2018 Aug;76(8):527-533. doi: 10.1590/0004-282X20180077. PMID: 30231126
Moro A, Munhoz RP, Moscovich M, Arruda WO, Raskin S, Silveira-Moriyama L, Ashizawa T, Teive HAG
Cerebellum 2017 Dec;16(5-6):938-944. doi: 10.1007/s12311-017-0869-2. PMID: 28589261Free PMC Article

Diagnosis

Mao C, Li X, Su Y, Luo H, Fan L, Zheng H, Fan Y, Yang Z, Zhang S, Hu Z, Hao X, Shi C, Xu Y
Cerebellum 2023 Jun;22(3):355-362. Epub 2022 Apr 19 doi: 10.1007/s12311-022-01405-4. PMID: 35441258
Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB; PanAmerican Hereditary Ataxia Network
Cerebellum 2020 Jun;19(3):446-458. doi: 10.1007/s12311-020-01109-7. PMID: 32086717
Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J
Parkinsonism Relat Disord 2019 Sep;66:182-188. Epub 2019 Aug 19 doi: 10.1016/j.parkreldis.2019.08.011. PMID: 31445906
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
Ashizawa T
Handb Clin Neurol 2012;103:507-19. doi: 10.1016/B978-0-444-51892-7.00032-2. PMID: 21827910Free PMC Article

Therapy

Hagerman KA, Ruan H, Edamura KN, Matsuura T, Pearson CE, Wang YH
Gene 2009 Apr 1;434(1-2):29-34. Epub 2008 Dec 25 doi: 10.1016/j.gene.2008.12.011. PMID: 19171184

Prognosis

Moro A, Munhoz RP, Camargo CH, Moscovich M, Farah M, Teive HAG
J Clin Neurosci 2020 Jan;71:150-152. Epub 2019 Sep 17 doi: 10.1016/j.jocn.2019.08.097. PMID: 31540857
McFarland KN, Liu J, Landrian I, Godiska R, Shanker S, Yu F, Farmerie WG, Ashizawa T
PLoS One 2015;10(8):e0135906. Epub 2015 Aug 21 doi: 10.1371/journal.pone.0135906. PMID: 26295943Free PMC Article
Liu G, Bissler JJ, Sinden RR, Leffak M
Mol Cell Biol 2007 Nov;27(22):7828-38. Epub 2007 Sep 10 doi: 10.1128/MCB.01276-07. PMID: 17846122Free PMC Article

Clinical prediction guides

Moro A, Munhoz RP, Camargo CH, Moscovich M, Farah M, Teive HAG
J Clin Neurosci 2020 Jan;71:150-152. Epub 2019 Sep 17 doi: 10.1016/j.jocn.2019.08.097. PMID: 31540857
Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J
Parkinsonism Relat Disord 2019 Sep;66:182-188. Epub 2019 Aug 19 doi: 10.1016/j.parkreldis.2019.08.011. PMID: 31445906
Santos LR, Teive HAG, Lopes Neto FDN, Macedo ACB, Mello NM, Zonta MB
Arq Neuropsiquiatr 2018 Aug;76(8):527-533. doi: 10.1590/0004-282X20180077. PMID: 30231126
Moro A, Munhoz RP, Moscovich M, Arruda WO, Raskin S, Silveira-Moriyama L, Ashizawa T, Teive HAG
Cerebellum 2017 Dec;16(5-6):938-944. doi: 10.1007/s12311-017-0869-2. PMID: 28589261Free PMC Article
Gheno TC, Furtado GV, Saute JAM, Donis KC, Fontanari AMV, Emmel VE, Pedroso JL, Barsottini O, Godeiro-Junior C, van der Linden H, Ternes Pereira E, Cintra VP, Marques W Jr, de Castilhos RM, Alonso I, Sequeiros J, Cornejo-Olivas M, Mazzetti P, Leotti VB, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica
Eur J Neurol 2017 Jul;24(7):892-e36. Epub 2017 May 31 doi: 10.1111/ene.13281. PMID: 28560845

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