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Spinocerebellar ataxia 47(SCA47)

MedGen UID:
1636349
Concept ID:
C4693672
Disease or Syndrome
Synonyms: SCA47; SPINOCEREBELLAR ATAXIA 47
SNOMED CT: PADDAS syndrome (1260097007); SCA47 - spinocerebellar ataxia type 47 (1260097007); Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (1260097007); PUM1-associated developmental disability, ataxia, seizure syndrome (1260097007)
 
Gene (location): PUM1 (1p35.2)
 
Monarch Initiative: MONDO:0033482
OMIM®: 617931

Definition

Spinocerebellar ataxia-47 (SCA47) is an autosomal dominant neurologic disorder characterized by slowly progressive gait ataxia. Additional features usually include diplopia, dysarthria, and dysmetria. Brain imaging shows atrophy of the cerebellar vermis. The age at onset is variable: affected members in 1 reported family developed symptoms as adults in their thirties or forties, whereas 1 unrelated girl had onset in the first decade (Gennarino et al., 2018). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

Clinical features

From HPO
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the finger from proximal to distal.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
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.
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.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar vermis atrophy
MedGen UID:
149271
Concept ID:
C0742028
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.

Professional guidelines

PubMed

Zou W, Li M, Wang X, Lu H, Hao Y, Chen D, Zhu S, Ji D, Zhang Z, Zhou P, Cao Y
J Assist Reprod Genet 2024 May;41(5):1245-1259. Epub 2024 Mar 12 doi: 10.1007/s10815-024-03057-1. PMID: 38470552Free PMC Article
Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N
J Neurol 2022 May;269(5):2315-2337. Epub 2021 Nov 6 doi: 10.1007/s00415-021-10874-2. PMID: 34743220
DaVee T, Coronel E, Papafragkakis C, Thaiudom S, Lanke G, Chakinala RC, Nogueras González GM, Bhutani MS, Ross WA, Weston BR, Lee JH
Gastrointest Endosc 2018 Jun;87(6):1443-1450. Epub 2018 Jan 5 doi: 10.1016/j.gie.2017.12.019. PMID: 29309780

Recent clinical studies

Etiology

Louis ED, Martuscello RT, Gionco JT, Hartstone WG, Musacchio JB, Portenti M, McCreary M, Kuo SH, Vonsattel JG, Faust PL
Acta Neuropathol 2023 Mar;145(3):265-283. Epub 2023 Jan 6 doi: 10.1007/s00401-022-02535-z. PMID: 36607423Free PMC Article
Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N
J Neurol 2022 May;269(5):2315-2337. Epub 2021 Nov 6 doi: 10.1007/s00415-021-10874-2. PMID: 34743220
Martins CR Jr, Martinez ARM, de Rezende TJR, Branco LMT, Pedroso JL, Barsottini OGP, Lopes-Cendes I, França MC Jr
Cerebellum 2017 Aug;16(4):792-796. doi: 10.1007/s12311-017-0854-9. PMID: 28386793
Martinez AR, Nunes MB, Faber I, D'Abreu A, Lopes-Cendes Í, França MC Jr
Cerebellum 2017 Feb;16(1):118-121. doi: 10.1007/s12311-016-0775-z. PMID: 27021342
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Diagnosis

Lin CR, Kuo SH, Opal P
Curr Neurol Neurosci Rep 2024 Mar;24(3):47-54. Epub 2024 Jan 25 doi: 10.1007/s11910-024-01331-4. PMID: 38270820Free PMC Article
Zhou Y, Börcsök J, Adib E, Kamran SC, Neil AJ, Stawiski K, Freeman D, Stormoen DR, Sztupinszki Z, Samant A, Nassar A, Bekele RT, Hanlon T, Valentine H, Epstein I, Sharma B, Felt K, Abbosh P, Wu CL, Efstathiou JA, Miyamoto DT, Anderson W, Szallasi Z, Mouw KW
Sci Adv 2023 Nov 24;9(47):eadg2263. Epub 2023 Nov 22 doi: 10.1126/sciadv.adg2263. PMID: 37992168Free PMC Article
Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N
J Neurol 2022 May;269(5):2315-2337. Epub 2021 Nov 6 doi: 10.1007/s00415-021-10874-2. PMID: 34743220
Marelli C, Cazeneuve C, Brice A, Stevanin G, Dürr A
Rev Neurol (Paris) 2011 May;167(5):385-400. Epub 2011 May 5 doi: 10.1016/j.neurol.2011.01.015. PMID: 21546047
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Therapy

Zhou Y, Börcsök J, Adib E, Kamran SC, Neil AJ, Stawiski K, Freeman D, Stormoen DR, Sztupinszki Z, Samant A, Nassar A, Bekele RT, Hanlon T, Valentine H, Epstein I, Sharma B, Felt K, Abbosh P, Wu CL, Efstathiou JA, Miyamoto DT, Anderson W, Szallasi Z, Mouw KW
Sci Adv 2023 Nov 24;9(47):eadg2263. Epub 2023 Nov 22 doi: 10.1126/sciadv.adg2263. PMID: 37992168Free PMC Article
Diaféria G, Bommarito S, Braga Neto P, Park SW, Padovani M, Haddad F, Haddad L, Voos MC, Chien HF, Pedroso JL, Barsottini O
Arq Neuropsiquiatr 2022 Oct;80(10):1017-1025. Epub 2022 Dec 19 doi: 10.1055/s-0042-1755203. PMID: 36535286Free PMC Article
Wilke C, Mengel D, Schöls L, Hengel H, Rakowicz M, Klockgether T, Durr A, Filla A, Melegh B, Schüle R, Reetz K, Jacobi H, Synofzik M
Neurology 2022 May 17;98(20):e1985-e1996. Epub 2022 Mar 9 doi: 10.1212/WNL.0000000000200257. PMID: 35264424Free PMC Article
França C, de Andrade DC, Silva V, Galhardoni R, Barbosa ER, Teixeira MJ, Cury RG
Parkinsonism Relat Disord 2020 Nov;80:1-6. Epub 2020 Sep 6 doi: 10.1016/j.parkreldis.2020.09.001. PMID: 32920321
Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin ML, Filla A, Roca A, Schöls L, Hengel H, Infante J, Kang JS, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, Bürk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T
Lancet Neurol 2020 Sep;19(9):738-747. doi: 10.1016/S1474-4422(20)30235-0. PMID: 32822634

Prognosis

Zhou Y, Börcsök J, Adib E, Kamran SC, Neil AJ, Stawiski K, Freeman D, Stormoen DR, Sztupinszki Z, Samant A, Nassar A, Bekele RT, Hanlon T, Valentine H, Epstein I, Sharma B, Felt K, Abbosh P, Wu CL, Efstathiou JA, Miyamoto DT, Anderson W, Szallasi Z, Mouw KW
Sci Adv 2023 Nov 24;9(47):eadg2263. Epub 2023 Nov 22 doi: 10.1126/sciadv.adg2263. PMID: 37992168Free PMC Article
Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Wilke C, Mengel D, Schöls L, Hengel H, Rakowicz M, Klockgether T, Durr A, Filla A, Melegh B, Schüle R, Reetz K, Jacobi H, Synofzik M
Neurology 2022 May 17;98(20):e1985-e1996. Epub 2022 Mar 9 doi: 10.1212/WNL.0000000000200257. PMID: 35264424Free PMC Article
Koeppen AH
J Neurol Sci 2011 Apr 15;303(1-2):1-12. doi: 10.1016/j.jns.2011.01.010. PMID: 21315377Free PMC Article
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Clinical prediction guides

Zhou Y, Börcsök J, Adib E, Kamran SC, Neil AJ, Stawiski K, Freeman D, Stormoen DR, Sztupinszki Z, Samant A, Nassar A, Bekele RT, Hanlon T, Valentine H, Epstein I, Sharma B, Felt K, Abbosh P, Wu CL, Efstathiou JA, Miyamoto DT, Anderson W, Szallasi Z, Mouw KW
Sci Adv 2023 Nov 24;9(47):eadg2263. Epub 2023 Nov 22 doi: 10.1126/sciadv.adg2263. PMID: 37992168Free PMC Article
Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Wilke C, Mengel D, Schöls L, Hengel H, Rakowicz M, Klockgether T, Durr A, Filla A, Melegh B, Schüle R, Reetz K, Jacobi H, Synofzik M
Neurology 2022 May 17;98(20):e1985-e1996. Epub 2022 Mar 9 doi: 10.1212/WNL.0000000000200257. PMID: 35264424Free PMC Article
Martinez AR, Nunes MB, Faber I, D'Abreu A, Lopes-Cendes Í, França MC Jr
Cerebellum 2017 Feb;16(1):118-121. doi: 10.1007/s12311-016-0775-z. PMID: 27021342
Storey E, Knight MA, Forrest SM, Gardner RJ
Cerebellum 2005;4(1):55-7. doi: 10.1080/14734220410019048. PMID: 15895561

Recent systematic reviews

Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N
J Neurol 2022 May;269(5):2315-2337. Epub 2021 Nov 6 doi: 10.1007/s00415-021-10874-2. PMID: 34743220

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