ArticleMovement disorders clinical practice2026
MFSD8-Related CLN7 Disease with Adult-Onset Cerebellar Ataxia: A Five-Patient Case Series.
Article in Movement disorders clinical practice, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Abstract
backgroundAdult-onset recessive cerebellar ataxias comprise a heterogeneous group of disorders.
objectivesTo describe a founder MFSD8 variant in adult-onset cerebellar ataxia.
methodsWe describe three unrelated Indian patients and one sibling pair (n = 5; median age 31 years) who exhibited progressive gait ataxia, limb dysmetria, titubation, gaze-evoked nystagmus, hypermetric saccades, and brisk reflexes without seizures, cognitive decline, visual impairment, or autonomic dysfunction. Brain MRI revealed moderate cerebellar atrophy.
resultsThey were all homozygous for MFSD8 c.935T>C(p.Ile312Thr) presenting with pure cerebellar syndrome in the third decade. This ultra-rare p.Ile312Thr variant was predicted as deleterious by in silico tools and absent in homozygous state in population databases. Runs of homozygosity indicated a shared ~1.3-12Mbp haplotype with a common ancestor ~620 years ago.
conclusionsThese findings expand MFSD8-related CLN7 disease to include adult-onset isolated ataxia and support inclusion of MFSD8 in adult ataxia gene panels, particularly in South Asian populations.
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