Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.
Angela RosenbohmHendrik PottMirja ThomsenHaloom RafehiSabine KayaSilke SzymczakAlexander E VolkKathrin MuellerIsabel SilveiraJochen H WeishauptHolger TönniesPhilip SeiblerKatja ZschiedrichSusen SchaakeAna WestenbergerChristine ZühlkeChristel DepienneJoanne TrinhAlbert C LudolphChristine KleinMelanie BahloKatja LohmannPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)
We demonstrate genetic and clinical findings during an 18-year period in a unique family carrying two different pathogenic repeat expansions, providing novel insights into their genotypic and phenotypic spectrums. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.