A novel CABC1/ADCK3 mutation in Adult-onset cerebellar ataxia (P6.021)

Conclusions:This is the first report of a duplication mutation on ADCK3/CABC1 in a patient with adult-onset progressive ataxia, chronic motor tics and familial seizures. Further studies are needed to elucidate whether the gain of function or a duplication-induced loss of function play a role in the pathophysiology of this condition.Disclosure: Dr. Malgireddy has nothing to disclose. Dr. Thompson has nothing to disclose. Dr. Torres-Russotto has received pesonal compensation for activities with Abbvie, Allergan, the American Parkinson Disease Foundation (APDA), Lundbeck, Teva, Huntington Disease Society of America (HDSA), Parkinson Disease Foundation, Ipsen, and Medtronic as a speaker or consultant.
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Tics, Tremor & amp;amp; Ataxia II Source Type: research