The entity of parkinsonism and associated lipomatosis.

OBJECTIVE: We describe here 6 cases (4 members from two families and two sporadic cases) that presented with parkinsonism and associated lipomatosis. BACKGROUND: Identification of new syndromes are very important in identifying new disease entities. DESIGN/METHODS: Genetic analysis for POLG, common mitochonodrial mutations, LRRK2, Parkin, PINK1, DJ1, and known genes causing lipomatosis has been excluded. Muscle biopsy was normal. RESULTS: Family 1:This 57 year-old lady of Indian origin developed rest-tremor and stiffness at the age of 49. She had a good response to dopamine agonists but developed psychosis and was switched to levodopa. She developed severe dyskinesias.Her brother and his daughter developed a similar clinical picture with young onset PD and multiple lipomas. MRI and muscle biopsy were normal. Biopsy of the lipomas showed angiolipomas.Family 2:This 78 year-old man of Indian origin developed a right-sided rest tremor at the age of 65. He was diagnosed with Parkinson’s disease and had initially good response to levodopa. Two years after onset he also developed urinary problems. He has hearing loss since childhood. In his family history, his father had lipomas, one sister has hearing loss, and two siblings have dementia but is unknown if they also have lipomas. His MRI and muscle biopsy were normal.Sporadic cases 1 and 2: Both cases of Indian origin developed typical rest-tremor and difficulties walking at the age of 65. Both showed good response to levodopa, normal MRI and had no family history of parkinsonism and/or lipomatosis. On examination, they had both multiple lipomas but normal muscle biopsy. CONCLUSIONS: Here we present a case series of patients of Indian origin with parkinsonism and associated lipomatosis. Extensive genetic analysis revealed no known mutations. We wish to highlight this phenotype as it may represent a new entity. Study Supported by: Disclosure: Dr. Sheerin has nothing to disclose. Dr. Wood has nothing to disclose. Dr. Bhatia has received personal compensation for activities with UCB Pharma, Novartis, and Ipsen as a speaker.