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Spinocerebellar ataxia type 27(SCA27)

MedGen UID:
373075
Concept ID:
C1836383
Disease or Syndrome
Synonyms: Cerebellar ataxia autosomal dominant FGF14-related; SCA27; Spinocerebellar Ataxia Type27
SNOMED CT: Spinocerebellar ataxia type 27 (719252002)
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.
 
Monarch Initiative: MONDO:0012247
OMIM®: 193003; 601515
Orphanet: ORPHA98764

Definition

Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare. [from SNOMEDCT_US]

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Abnormal vestibulo-ocular reflex
MedGen UID:
867213
Concept ID:
C4021571
Anatomical Abnormality
An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
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.
Orofacial dyskinesia
MedGen UID:
57747
Concept ID:
C0152115
Disease or Syndrome
Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
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.
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Upbeat nystagmus
MedGen UID:
107943
Concept ID:
C0585545
Finding
In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.
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.
Absent smooth pursuit
MedGen UID:
870481
Concept ID:
C4024928
Finding
A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 27
Follow this link to review classifications for Spinocerebellar ataxia type 27 in Orphanet.

Professional guidelines

PubMed

Anheim M, Torres Martin JV, Kolb SA
Cerebellum 2020 Apr;19(2):243-251. doi: 10.1007/s12311-020-01102-0. PMID: 31933160
Tan S, Wang RH, Niu HX, Shi CH, Mao CY, Zhang R, Song B, Sun SL, Liu XJ, Hou HM, Liu YT, Gao Y, Fang H, Kong XD, Xu YM
Chin Med J (Engl) 2015 Feb 5;128(3):291-4. doi: 10.4103/0366-6999.150087. PMID: 25635421Free PMC Article
Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD
Cerebellum 2013 Apr;12(2):176-93. doi: 10.1007/s12311-012-0412-4. PMID: 22915085Free PMC Article

Recent clinical studies

Etiology

Choquet K, La Piana R, Brais B
Neurogenetics 2015 Jul;16(3):233-6. Epub 2015 Jan 8 doi: 10.1007/s10048-014-0436-7. PMID: 25566820
Chen Z, Li X, Tang B, Wang J, Shi Y, Sun Z, Zhang L, Pan Q, Xia K, Jiang H
Neurosci Lett 2012 Jun 27;520(1):16-9. Epub 2012 May 11 doi: 10.1016/j.neulet.2012.05.008. PMID: 22579694

Diagnosis

Strupp M, Maul S, Konte B, Hartmann AM, Giegling I, Wollenteit S, Feil K, Rujescu D
Cerebellum 2020 Jun;19(3):348-357. doi: 10.1007/s12311-020-01113-x. PMID: 32157568Free PMC Article

Therapy

Schesny M, Joncourt F, Tarnutzer AA
Cerebellum 2019 Jun;18(3):649-653. doi: 10.1007/s12311-018-0997-3. PMID: 30607796

Clinical prediction guides

Schesny M, Joncourt F, Tarnutzer AA
Cerebellum 2019 Jun;18(3):649-653. doi: 10.1007/s12311-018-0997-3. PMID: 30607796

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