Peroneal muscular atrophy with parkinsonism, ptosis, and congenital strabismus.
Peroneal muscular atrophy (PMA) may be occasionally associated with other neurodegenerative features including parkinsonism. We report the association of PMA of neuronal type with parkinsonism, ptosis and congenital strabismus in a 62-year-old Sicilian woman. The complete syndrome was present only in the proband, but variously combined features were present in ten other family members over four generations, with likely autosomal dominant inheritance. Although a similar syndrome of PMA, ptosis, parkinsonism and dementia was already reported, this family showed a previously undescribed combination of features in view of the presence of congenital strabismus.
Scoditti
U
U
Institute of Neurology, University of Parma, Italy.
Gemignani
F
F
Colonna
F
F
Ludovico
L
L
Bettoni
L
L
D001763:Blepharoptosis / Q000453:epidemiology* / Q000235:genetics; D015897:Comorbidity; D004576:Electromyography; D005190:Family; D005260:Female; D006801:Humans; D008875:Middle Aged; D009133:Muscular Atrophy / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D009431:Neural Conduction; D010300:Parkinson Disease / Q000453:epidemiology*; D010375:Pedigree; D010543:Peroneal Nerve / Q000503:physiopathology; D013285:Strabismus / Q000151:congenital* / Q000453:epidemiology; D013577:Syndrome