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Spinocerebellar Ataxia Type 28.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 17 [updated 2018 Mar 22].

Author information

Department of Medical Sciences, University of Turin, Turin, Italy
INSERM U975, AP-HP Département de Génétique, Institut du Cerveau et de la Moelle Epinière, Pitié-Salpêtrière University Hospital, Paris, France



Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.


Because the phenotype of SCA28 is indistinguishable from many other inherited disorders with SCA, the diagnosis of SCA28 is established in a proband with typical clinical findings by the identification of a heterozygous pathogenic variant in AFG3L2 by molecular genetic testing.


Treatment of manifestations: Ambulatory aids (crutches, canes, walkers); home adaptations as needed; physical therapy to help with tasks such as eating, dressing, walking, and bathing; stretching exercise for those with pyramidal involvement to avoid contractions and lack of comfort during sleep. Speech/ language therapy is helpful for those with dysarthria and swallowing difficulties as is surgery for severe ptosis. Prevention of secondary complications: Psychological support; weight control to facilitate ambulation; thickened feeds or gastrostomy feedings to avoid aspiration pneumonia. Surveillance: Annual assessment to evaluate stability or progression of the cerebellar ataxia. Monitoring of speech and swallowing. Agents/circumstances to avoid: Alcohol consumption and sedatives such as benzodiazepines that may worsen gait ataxia and coordination.


SCA28 is inherited in an autosomal dominant manner. Most individuals diagnosed with SCA28 have an affected parent; the proportion of cases caused by de novo pathogenic variants is unknown. Each child of an individual with SCA28 has a 50% risk of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk and preimplantation genetic diagnosis are possible options if the pathogenic variant in the family has been identified.

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