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Spinocerebellar ataxia type 2(SCA2)

MedGen UID:
155704
Concept ID:
C0752121
Disease or Syndrome
Synonyms: CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; Olivopontocerebellar atrophy 2; Olivopontocerebellar atrophy Holguin type; OLIVOPONTOCEREBELLAR ATROPHY II; SCA 2; SCA2; Spinocerebellar ataxia Cuban type; Spinocerebellar ataxia with slow eye movements; Spinocerebellar atrophy 2; SPINOCEREBELLAR ATROPHY II; Wadia Swami syndrome
SNOMED CT: Spinocerebellar ataxia type 2 (715751004)
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): ATXN2 (12q24.12)
 
Monarch Initiative: MONDO:0008458
OMIM®: 183090
Orphanet: ORPHA98756

Definition

Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration. [from GeneReviews]

Additional descriptions

From OMIM
Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (164400), SCA2, and SCA3, or Machado-Joseph disease (109150). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).  http://www.omim.org/entry/183090
From MedlinePlus Genetics
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).

Over time, individuals with SCA2 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Some people with SCA2 develop a group of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). Individuals with SCA2 may have problems with short term memory, planning, and problem solving, or experience an overall decline in intellectual function (dementia).

Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA2 usually survive 10 to 20 years after symptoms first appear.  https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary bladder sphincter dysfunction
MedGen UID:
334804
Concept ID:
C1843663
Finding
Abnormal function of a sphincter of the urinary bladder.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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).
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.
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
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.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Olivopontocerebellar atrophy
MedGen UID:
10435
Concept ID:
C0028968
Disease or Syndrome
Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Abnormality of extrapyramidal motor function
MedGen UID:
115941
Concept ID:
C0234133
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
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.
Action tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
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.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition with deficits in thinking, reasoning, or remembering.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
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.
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.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Dilated fourth ventricle
MedGen UID:
376050
Concept ID:
C1847117
Finding
An abnormal dilatation of the fourth cerebral ventricle.
Spinocerebellar tract degeneration
MedGen UID:
401075
Concept ID:
C1866751
Disease or Syndrome
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Distal amyotrophy
MedGen UID:
338530
Concept ID:
C1848736
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Gaze-evoked nystagmus
MedGen UID:
75750
Concept ID:
C0271390
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.
Dysmetric saccades
MedGen UID:
322908
Concept ID:
C1836392
Finding
The controller signal for saccadic eye movements has two components
Impaired horizontal smooth pursuit
MedGen UID:
355793
Concept ID:
C1866753
Finding
An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 2
Follow this link to review classifications for Spinocerebellar ataxia type 2 in Orphanet.

Professional guidelines

PubMed

Cruz-Mariño T, Laffita-Mesa JM, Gonzalez-Zaldivar Y, Velazquez-Santos M, Aguilera-Rodriguez R, Estupinan-Rodriguez A, Vazquez-Mojena Y, Macleod P, Paneque M, Velazquez-Perez L
J Genet Couns 2014 Feb;23(1):89-96. Epub 2013 Jun 28 doi: 10.1007/s10897-013-9615-1. PMID: 23813298
Schwabova J, Zahalka F, Komarek V, Maly T, Hrasky P, Gryc T, Cakrt O, Zumrova A
J Neurol Sci 2012 May 15;316(1-2):79-85. Epub 2012 Feb 13 doi: 10.1016/j.jns.2012.01.022. PMID: 22336696
Schöls L, Gispert S, Vorgerd M, Menezes Vieira-Saecker AM, Blanke P, Auburger G, Amoiridis G, Meves S, Epplen JT, Przuntek H, Pulst SM, Riess O
Arch Neurol 1997 Sep;54(9):1073-80. doi: 10.1001/archneur.1997.00550210011007. PMID: 9311350

Recent clinical studies

Etiology

Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A
Lancet Neurol 2022 Mar;21(3):225-233. Epub 2022 Jan 18 doi: 10.1016/S1474-4422(21)00457-9. PMID: 35063116
Inada R, Hirano M, Oka N, Samukawa M, Saigoh K, Suzuki H, Udaka F, Hashiguchi A, Takashima H, Hamada Y, Nakamura Y, Kusunoki S
J Neurol 2021 Aug;268(8):2933-2942. Epub 2021 Feb 24 doi: 10.1007/s00415-021-10467-z. PMID: 33625581
Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB; PanAmerican Hereditary Ataxia Network
Cerebellum 2020 Jun;19(3):446-458. doi: 10.1007/s12311-020-01109-7. PMID: 32086717
Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez Labrada R, Aguilera Rodríguez R, Laffita Pérez D, Canales Ochoa N, Medrano Montero J, Estupiñán Rodríguez A, Osorio Borjas M, Góngora Marrero M, Reynaldo Cejas L, González Zaldivar Y, Almaguer Gotay D
Mov Disord 2018 Sep;33(9):1481-1487. Epub 2018 Aug 22 doi: 10.1002/mds.27437. PMID: 30132999
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rüb U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD
Nature 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320. PMID: 20740007Free PMC Article

Diagnosis

Velázquez-Pérez L, Rodríguez-Labrada R, González-Garcés Y, Vázquez-Mojena Y, Pérez-Rodríguez R, Ziemann U
Clin Neurophysiol 2022 Mar;135:1-12. Epub 2021 Dec 23 doi: 10.1016/j.clinph.2021.12.005. PMID: 34998091
Gigante AF, Lelli G, Romano R, Pellicciari R, Di Candia A, Mancino PV, Pau M, Fiore P, Defazio G
Cerebellum 2020 Feb;19(1):40-47. doi: 10.1007/s12311-019-01079-5. PMID: 31637587
Pelosi L, Iodice R, Antenora A, Kilfoyle D, Mulroy E, Rodrigues M, Roxburgh R, Iovino A, Filla A, Manganelli F, Santoro L
Muscle Nerve 2019 Sep;60(3):271-278. Epub 2019 Jul 5 doi: 10.1002/mus.26613. PMID: 31228263
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM
Mov Disord 2017 May;32(5):708-718. Epub 2017 Mar 3 doi: 10.1002/mds.26969. PMID: 28256108
Lastres-Becker I, Rüb U, Auburger G
Cerebellum 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y. PMID: 18418684

Therapy

Kim G, Nakayama L, Blum JA, Akiyama T, Boeynaems S, Chakraborty M, Couthouis J, Tassoni-Tsuchida E, Rodriguez CM, Bassik MC, Gitler AD
Cell Rep 2022 Oct 25;41(4):111508. doi: 10.1016/j.celrep.2022.111508. PMID: 36288714Free PMC Article
Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A
Lancet Neurol 2022 Mar;21(3):225-233. Epub 2022 Jan 18 doi: 10.1016/S1474-4422(21)00457-9. PMID: 35063116
Egorova PA, Bezprozvanny IB
Neurotherapeutics 2019 Oct;16(4):1050-1073. doi: 10.1007/s13311-019-00777-6. PMID: 31435879Free PMC Article
Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez Labrada R, Aguilera Rodríguez R, Laffita Pérez D, Canales Ochoa N, Medrano Montero J, Estupiñán Rodríguez A, Osorio Borjas M, Góngora Marrero M, Reynaldo Cejas L, González Zaldivar Y, Almaguer Gotay D
Mov Disord 2018 Sep;33(9):1481-1487. Epub 2018 Aug 22 doi: 10.1002/mds.27437. PMID: 30132999
Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst SM
Nature 2017 Apr 20;544(7650):362-366. Epub 2017 Apr 12 doi: 10.1038/nature22044. PMID: 28405024Free PMC Article

Prognosis

Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez Labrada R, Aguilera Rodríguez R, Laffita Pérez D, Canales Ochoa N, Medrano Montero J, Estupiñán Rodríguez A, Osorio Borjas M, Góngora Marrero M, Reynaldo Cejas L, González Zaldivar Y, Almaguer Gotay D
Mov Disord 2018 Sep;33(9):1481-1487. Epub 2018 Aug 22 doi: 10.1002/mds.27437. PMID: 30132999
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM
Mov Disord 2017 May;32(5):708-718. Epub 2017 Mar 3 doi: 10.1002/mds.26969. PMID: 28256108
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y
Mov Disord 2016 Apr;31(4):570-8. Epub 2016 Feb 5 doi: 10.1002/mds.26532. PMID: 26846400
Velázquez-Pérez L, Rodríguez-Labrada R, García-Rodríguez JC, Almaguer-Mederos LE, Cruz-Mariño T, Laffita-Mesa JM
Cerebellum 2011 Jun;10(2):184-98. doi: 10.1007/s12311-011-0265-2. PMID: 21399888
Krogias C, Postert T, Eyding J
Int Rev Neurobiol 2010;90:217-35. doi: 10.1016/S0074-7742(10)90016-0. PMID: 20692505

Clinical prediction guides

Paul S, Dansithong W, Gandelman M, Figueroa KP, Zu T, Ranum LPW, Scoles DR, Pulst SM
Ann Neurol 2023 Feb;93(2):398-416. Epub 2022 Oct 27 doi: 10.1002/ana.26515. PMID: 36151701Free PMC Article
Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A
Lancet Neurol 2022 Mar;21(3):225-233. Epub 2022 Jan 18 doi: 10.1016/S1474-4422(21)00457-9. PMID: 35063116
Velázquez-Pérez L, Rodríguez-Labrada R, González-Garcés Y, Vázquez-Mojena Y, Pérez-Rodríguez R, Ziemann U
Clin Neurophysiol 2022 Mar;135:1-12. Epub 2021 Dec 23 doi: 10.1016/j.clinph.2021.12.005. PMID: 34998091
Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez Labrada R, Aguilera Rodríguez R, Laffita Pérez D, Canales Ochoa N, Medrano Montero J, Estupiñán Rodríguez A, Osorio Borjas M, Góngora Marrero M, Reynaldo Cejas L, González Zaldivar Y, Almaguer Gotay D
Mov Disord 2018 Sep;33(9):1481-1487. Epub 2018 Aug 22 doi: 10.1002/mds.27437. PMID: 30132999
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM
Mov Disord 2017 May;32(5):708-718. Epub 2017 Mar 3 doi: 10.1002/mds.26969. PMID: 28256108

Recent systematic reviews

Sena LS, Dos Santos Pinheiro J, Hasan A, Saraiva-Pereira ML, Jardim LB
Clin Genet 2021 Sep;100(3):258-267. Epub 2021 May 27 doi: 10.1111/cge.13978. PMID: 33960424

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