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Spinocerebellar ataxia 28(SCA28)

MedGen UID:
339941
Concept ID:
C1853249
Disease or Syndrome
Synonyms: SCA28; Spinocerebellar ataxia type 28; Spinocerebellar Ataxia Type28
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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: AFG3L2
Cytogenetic location: 18p11.21
OMIM: 610246

Definition

Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, slowly progressive gait and limb ataxia, dysarthria, hyperreflexia of the lower limbs, nystagmus, and ophthalmoparesis. The usual age at onset is early adulthood (24.4 ± 14.9 years); range is from age three to 60 years. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset. [from GeneReviews]

Clinical features

Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
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).
Gaze-evoked nystagmus
MedGen UID:
504533
Concept ID:
CN000601
Finding
Nystagmus made apparent by looking to the right or to the left.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
An abnormal reflex consisting of dorsiflexion of the great toe and abduction of the other toes in response to cutaneous stimulation of the plantar surface of the foot.
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Cerebellar atrophy
MedGen UID:
504781
Concept ID:
CN001166
Finding
Atrophy (wasting) of the cerebellum`(FMA:67944).
Parkinsonism
MedGen UID:
504793
Concept ID:
CN001191
Finding
Characteristic neurologic anomaly resulting form 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.
Dystonia
MedGen UID:
504804
Concept ID:
CN001220
Finding
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Gait ataxia
MedGen UID:
505076
Concept ID:
CN001868
Finding
A type of `ataxia` (HP:0001251) characterized by the impairment of the ability to coordinate the movements required for normal walking.
Limb ataxia
MedGen UID:
505079
Concept ID:
CN001872
Finding
A kind of `ataxia` (HP:0001251) that affects movements of the extremities.

Recent clinical studies

Etiology

Jia D, Tang B, Chen Z, Shi Y, Sun Z, Zhang L, Wang J, Xia K, Jiang H
Int J Neurosci 2012 Oct;122(10):560-2. Epub 2012 Jun 22 doi: 10.3109/00207454.2012.690796. [Epub ahead of print] PMID: 22563911
Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A
Hum Mutat 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342. PMID: 20725928

Diagnosis

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C
PLoS Genet 2011 Oct;7(10):e1002325. Epub 2011 Oct 13 doi: 10.1371/journal.pgen.1002325. PMID: 22022284Free PMC Article

Clinical prediction guides

Mariotti C, Bella DD, Di Donato S, Taroni F
Handb Clin Neurol 2012;103:575-9. doi: 10.1016/B978-0-444-51892-7.00039-5. PMID: 21827917

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