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Spinocerebellar ataxia, autosomal recessive 27(SCAR27)

MedGen UID:
1672866
Concept ID:
C5193058
Disease or Syndrome
Synonyms: SCAR27; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
 
Gene (location): GDAP2 (1p12)
 
Monarch Initiative: MONDO:0032706
OMIM®: 618369

Definition

Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by Eidhof et al., 2018). [from OMIM]

Clinical features

From HPO
Lower limb hypertonia
MedGen UID:
375612
Concept ID:
C1845245
Finding
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
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.
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Apathy
MedGen UID:
39083
Concept ID:
C0085632
Mental or Behavioral Dysfunction
Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
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.
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.
Gait imbalance
MedGen UID:
373028
Concept ID:
C1836150
Finding
Spastic ataxia
MedGen UID:
376528
Concept ID:
C1849156
Disease or Syndrome
Brisk reflexes
MedGen UID:
382164
Concept ID:
C2673700
Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Frequent falls
MedGen UID:
163408
Concept ID:
C0850703
Finding
Hypermetric saccades
MedGen UID:
140835
Concept ID:
C0423083
Finding
A saccade that overshoots the target with the dynamic saccade.
Jerky ocular pursuit movements
MedGen UID:
342908
Concept ID:
C1853558
Finding
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

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
Mancebo E, Bernardo I, Castro MJ, Fernández-Martinez FJ, Barreiro E, De-Pablos P, Marin MJ, Cortezon S, Paz-Artal E, Allende LM
Prenat Diagn 2007 Sep;27(9):861-4. doi: 10.1002/pd.1787. PMID: 17600866

Recent clinical studies

Etiology

Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G
Eur J Neurol 2020 Mar;27(3):498-505. Epub 2019 Nov 1 doi: 10.1111/ene.14094. PMID: 31571321
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N
Eur J Neurol 2020 Feb;27(2):334-342. Epub 2019 Oct 17 doi: 10.1111/ene.14082. PMID: 31509304Free PMC Article
Perkins E, Suminaite D, Jackson M
J Physiol 2016 Aug 15;594(16):4661-76. Epub 2016 Apr 24 doi: 10.1113/JP271195. PMID: 26821241Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Mavrou A, Tsangaris GT, Roma E, Kolialexi A
Anticancer Res 2008 Jan-Feb;28(1B):401-5. PMID: 18383876

Diagnosis

Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium, Synofzik M
Ann Neurol 2023 Sep;94(3):470-485. Epub 2023 Jun 12 doi: 10.1002/ana.26712. PMID: 37243847
Anheim M, Torres Martin JV, Kolb SA
Cerebellum 2020 Apr;19(2):243-251. doi: 10.1007/s12311-020-01102-0. PMID: 31933160
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N
Eur J Neurol 2020 Feb;27(2):334-342. Epub 2019 Oct 17 doi: 10.1111/ene.14082. PMID: 31509304Free PMC Article
Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM
Orphanet J Rare Dis 2015 Sep 4;10:108. doi: 10.1186/s13023-015-0328-4. PMID: 26338206Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Therapy

Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium, Synofzik M
Ann Neurol 2023 Sep;94(3):470-485. Epub 2023 Jun 12 doi: 10.1002/ana.26712. PMID: 37243847
Grande V, Ornaghi F, Comerio L, Restelli E, Masone A, Corbelli A, Tolomeo D, Capone V, Axten JM, Laping NJ, Fiordaliso F, Sallese M, Chiesa R
Hum Mol Genet 2018 Jul 15;27(14):2477-2489. doi: 10.1093/hmg/ddy152. PMID: 29718201
Rosafio F, Cavallieri F, Guaraldi P, Taroni F, Nichelli PF, Mandrioli J
Clin Neurol Neurosurg 2016 Apr;143:1-3. Epub 2016 Feb 4 doi: 10.1016/j.clineuro.2016.01.032. PMID: 26874936
Scudiero DA
Cancer Res 1980 Apr;40(4):984-90. PMID: 7357564

Prognosis

Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N
Eur J Neurol 2020 Feb;27(2):334-342. Epub 2019 Oct 17 doi: 10.1111/ene.14082. PMID: 31509304Free PMC Article
Shohet A, Cohen L, Haguel D, Mozer Y, Shomron N, Tzur S, Bazak L, Basel Salmon L, Krause I
Eur J Hum Genet 2019 Feb;27(2):263-268. Epub 2018 Sep 26 doi: 10.1038/s41431-018-0268-2. PMID: 30258122Free PMC Article

Clinical prediction guides

Van Poucke M, Stee K, Sonck L, Stock E, Bosseler L, Van Dorpe J, Van Nieuwerburgh F, Deforce D, Peelman LJ, Van Ham L, Bhatti SFM, Broeckx BJG
Eur J Hum Genet 2019 Oct;27(10):1561-1568. Epub 2019 Jun 3 doi: 10.1038/s41431-019-0432-3. PMID: 31160700Free PMC Article
Nanetti L, Sarto E, Castaldo A, Magri S, Mongelli A, Rossi Sebastiano D, Canafoglia L, Grisoli M, Malaguti C, Rivieri F, D'Amico MC, Di Bella D, Franceschetti S, Mariotti C, Taroni F
J Neurol 2019 Feb;266(2):378-385. Epub 2018 Dec 4 doi: 10.1007/s00415-018-9141-z. PMID: 30515630
Sen NE, Drost J, Gispert S, Torres-Odio S, Damrath E, Klinkenberg M, Hamzeiy H, Akdal G, Güllüoğlu H, Başak AN, Auburger G
Neurobiol Dis 2016 Dec;96:115-126. Epub 2016 Sep 3 doi: 10.1016/j.nbd.2016.09.002. PMID: 27597528
Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM
Orphanet J Rare Dis 2015 Sep 4;10:108. doi: 10.1186/s13023-015-0328-4. PMID: 26338206Free PMC Article
Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK
Orphanet J Rare Dis 2014 Apr 23;9:58. doi: 10.1186/1750-1172-9-58. PMID: 24755310Free PMC Article

Recent systematic reviews

Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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