ArticleAnnals of clinical and translational neurology2026
Juvenile Huntington Disease With Cerebellar-Predominant Atrophy Identified by Genome Sequencing.
Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6-year-old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar-predominant atrophy with an initially normal-appearing striatum. Extensive metabolic testing, exome sequencing, and an ataxia repeat expansion panel were nondiagnostic. Research genome sequencing identified a large pathogenic huntingtin CAG repeat expansion that confirmatory testing sized beyond 180 repeats. This case illustrates a cerebellar-predominant imaging signature of extreme repeat expansions and the limitations of exome sequencing for detecting them.
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