U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spinocerebellar ataxia type 14(SCA14)

MedGen UID:
343106
Concept ID:
C1854369
Disease or Syndrome
Synonyms: SCA14; Spinocerebellar Ataxia Type14
SNOMED CT: Spinocerebellar ataxia type 14 (719210007)
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): PRKCG (19q13.42)
 
Monarch Initiative: MONDO:0011540
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. The average age of onset is in the 30s, with a range from childhood to the seventh decade. Life span is not shortened. [from GeneReviews]

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and 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.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
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.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Facial myokymia
MedGen UID:
78741
Concept ID:
C0270871
Disease or Syndrome
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
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.
Focal dystonia
MedGen UID:
149279
Concept ID:
C0743332
Disease or Syndrome
A type of dystonia that is localized to a specific part of the body.
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.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.
Impaired vibration sensation at ankles
MedGen UID:
343107
Concept ID:
C1854372
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.
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 14
Follow this link to review classifications for Spinocerebellar ataxia type 14 in Orphanet.

Professional guidelines

PubMed

Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H
Mov Disord 2018 Jul;33(7):1119-1129. Epub 2018 Mar 30 doi: 10.1002/mds.27334. PMID: 29603387Free PMC Article

Recent clinical studies

Etiology

Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M
Ann Clin Transl Neurol 2021 Apr;8(4):774-789. Epub 2021 Mar 19 doi: 10.1002/acn3.51315. PMID: 33739604Free PMC Article
Ihl T, Kadas EM, Oberwahrenbrock T, Endres M, Klockgether T, Schroeter J, Brandt AU, Paul F, Minnerop M, Doss S, Schmitz-Hübsch T, Zimmermann HG
Cerebellum 2020 Aug;19(4):469-482. doi: 10.1007/s12311-020-01130-w. PMID: 32338350Free PMC Article
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H
Mov Disord 2018 Jul;33(7):1119-1129. Epub 2018 Mar 30 doi: 10.1002/mds.27334. PMID: 29603387Free PMC Article
Shimobayashi E, Kapfhammer JP
Curr Neuropharmacol 2018 Jan 30;16(2):151-159. doi: 10.2174/1570159X15666170529104000. PMID: 28554312Free PMC Article
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

Diagnosis

Duggirala N, Ngo KJ, Pagnoni SM, Rosa AL, Fogel BL
J Med Case Rep 2023 Apr 27;17(1):168. doi: 10.1186/s13256-023-03897-y. PMID: 37101238Free PMC Article
De Michele G, Galatolo D, Galosi S, Mignarri A, Silvestri G, Casali C, Leuzzi V, Ricca I, Barghigiani M, Tessa A, Cioffi E, Caputi C, Riso V, Dotti MT, Saccà F, De Michele G, Cocozza S, Filla A, Santorelli FM
J Neurol 2022 Mar;269(3):1476-1484. Epub 2021 Jul 22 doi: 10.1007/s00415-021-10712-5. PMID: 34292398Free PMC Article
Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M
Ann Clin Transl Neurol 2021 Apr;8(4):774-789. Epub 2021 Mar 19 doi: 10.1002/acn3.51315. PMID: 33739604Free PMC Article
Ihl T, Kadas EM, Oberwahrenbrock T, Endres M, Klockgether T, Schroeter J, Brandt AU, Paul F, Minnerop M, Doss S, Schmitz-Hübsch T, Zimmermann HG
Cerebellum 2020 Aug;19(4):469-482. doi: 10.1007/s12311-020-01130-w. PMID: 32338350Free PMC Article
Wedding IM, Koht J, Dietrichs E, Landrø NI, Tallaksen CM
BMC Neurol 2013 Nov 29;13:186. doi: 10.1186/1471-2377-13-186. PMID: 24289098Free PMC Article

Prognosis

Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H
Mov Disord 2018 Jul;33(7):1119-1129. Epub 2018 Mar 30 doi: 10.1002/mds.27334. PMID: 29603387Free PMC Article

Clinical prediction guides

Mezey SE, Kapfhammer JP, Shimobayashi E
Genes (Basel) 2022 Aug 9;13(8) doi: 10.3390/genes13081417. PMID: 36011327Free PMC Article
Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M
Ann Clin Transl Neurol 2021 Apr;8(4):774-789. Epub 2021 Mar 19 doi: 10.1002/acn3.51315. PMID: 33739604Free PMC Article
Ihl T, Kadas EM, Oberwahrenbrock T, Endres M, Klockgether T, Schroeter J, Brandt AU, Paul F, Minnerop M, Doss S, Schmitz-Hübsch T, Zimmermann HG
Cerebellum 2020 Aug;19(4):469-482. doi: 10.1007/s12311-020-01130-w. PMID: 32338350Free PMC Article
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
Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K
Arch Neurol 2003 Dec;60(12):1749-51. doi: 10.1001/archneur.60.12.1749. PMID: 14676051

Recent systematic reviews

Parati M, Ambrosini E, DE Maria B, Gallotta M, Dalla Vecchia LA, Ferriero G, Ferrante S
Eur J Phys Rehabil Med 2022 Jun;58(3):363-377. Epub 2022 Jan 5 doi: 10.23736/S1973-9087.22.07037-X. PMID: 34985239Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...