Grandmother (age at onset AAO 63 years, died age 65 years pulmonary embolism

Grandmother (age at onset [AAO] 63 years, died age 65 years [pulmonary embolism], epilepsy since age 55 years), mother (AAO 49 years, died age 52 years [reason unclear]), and son (age 31 years, AAO childhood) with various movement disorders. a family with a wide range of movement disorders carrying a new heterozygous splice variant in STUB1 (NM_005861:), probably causing skipping of exon 7, as relevant differential diagnosis to Huntington disease.1,2 The grandmother and mother (improved with olanzapine) presented with chorea, dystonia (also platysma), head tremor, orofacial dyskinesias (prior to neuroleptics), saccadic eye movements, ataxia with cerebellar atrophy (Figure)