Clinical and functional description of a new form of autosomal recessive familial parkinsons disease with late onset

S. Manzano Palomo, M. Rioja, J

Abstract

We report the clinical and dopaminergic functional study of two families with autosomal recessive Parkinson disease coming from a geneticisolate region, in which known causative genes for recessive Parkinson disease (PARKIN, DJ1, PINK 1) were ruled out by homozygosity search.LRRK2 frequent mutation G2019S and α-synuclein were also examined and discarged as well, as the cause of a pseudorecessive pattern oftransmission. Functional study with iodine-123-betaIoflupane SPECT (DaTSCAN®, GE) of affected cases showed a bilateral although asymmetricaluptake in putamen and caudate nucleus, demonstrative that a presynaptic lesion was responsible for the clinical picture. 123–IBZMSPECT was normal, ruling out a postsynaptic lesion. These families present a late onset benign Parkinson disease that represents a new formof recessive familial Parkinson disease.