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Spinocerebellar ataxia 14(SCA14)

MedGen UID:
343106
Concept ID:
C1854369
Disease or Syndrome
Synonyms: SCA14; Spinocerebellar ataxia type 14; Spinocerebellar Ataxia Type14
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): PRKCG (19q13.42)
OMIM®: 605361
Orphanet: ORPHA98763

Definition

Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. Age of onset ranges from childhood to the sixth decade. Life span is not shortened. [from GeneReviews]

Clinical features

Facial myokymia
MedGen UID:
504420
Concept ID:
CN000297
Finding
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
Depression
MedGen UID:
137999
Concept ID:
C0344315
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Progressive cerebellar ataxia
MedGen UID:
347902
Concept ID:
C1859521
Finding
Mental deterioration
MedGen UID:
349663
Concept ID:
C1863063
Finding
Memory impairment
MedGen UID:
368424
Concept ID:
C1963167
Finding
Facial myokymia
MedGen UID:
504420
Concept ID:
CN000297
Finding
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Cerebellar atrophy
MedGen UID:
504781
Concept ID:
CN001166
Finding
Atrophy (wasting) of the cerebellum.
Gait ataxia
MedGen UID:
505076
Concept ID:
CN001868
Finding
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.
Focal dystonia
MedGen UID:
505611
Concept ID:
CN003872
Finding
A type of dystonia that is localized to a specific part of the body.
Impaired vibration sensation at ankles
MedGen UID:
501022
Concept ID:
CN006052
Finding
A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Facial myokymia
MedGen UID:
504420
Concept ID:
CN000297
Finding
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSpinocerebellar ataxia 14
Follow this link to review classifications for Spinocerebellar ataxia 14 in Orphanet.

Professional guidelines

PubMed

Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. [Epub ahead of print] PMID: 20050888

Recent clinical studies

Etiology

Ganos C, Zittel S, Minnerop M, Schunke O, Heinbokel C, Gerloff C, Zühlke C, Bauer P, Klockgether T, Münchau A, Bäumer T
Cerebellum 2014 Feb;13(1):89-96. doi: 10.1007/s12311-013-0522-7. PMID: 24030789
Wedding IM, Koht J, Dietrichs E, Landrø NI, Tallaksen CM
BMC Neurol 2013 Nov 29;13:186. doi: 10.1186/1471-2377-13-186. [Epub ahead of print] PMID: 24289098Free PMC Article
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G
Ann Neurol 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628. PMID: 16193476
Verbeek DS, Warrenburg BP, Hennekam FA, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Kremer HP, Sinke RJ
Hum Genet 2005 Jun;117(1):88-91. Epub 2005 Apr 20 doi: 10.1007/s00439-005-1278-z. [Epub ahead of print] PMID: 15841389

Diagnosis

Wedding IM, Koht J, Dietrichs E, Landrø NI, Tallaksen CM
BMC Neurol 2013 Nov 29;13:186. doi: 10.1186/1471-2377-13-186. [Epub ahead of print] PMID: 24289098Free PMC Article

Clinical prediction guides

Ganos C, Zittel S, Minnerop M, Schunke O, Heinbokel C, Gerloff C, Zühlke C, Bauer P, Klockgether T, Münchau A, Bäumer T
Cerebellum 2014 Feb;13(1):89-96. doi: 10.1007/s12311-013-0522-7. PMID: 24030789

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