Abstract Details

Title Sporadic Parkinson's Disease and Amyotrophic Lateral Sclerosis: A New Syndrome?

Topic Movement Disorders

Presentation(s) P5 - Poster Session 5 (5:30 PM-6:30 PM)

Poster/Presentation
Number 10-049

Objective We present a sporadic case of Amyotrophic Lateral Sclerosis (ALS) in a patient with Parkinson's Disease (PD): Brait-Fahn-Schwartz Disease. Because it is an exceedingly rare disease it is not well characterized. During our investigations to identify the mechanisms of the disease, we also identified a lymphoproliferative disorder which might suggest a possible link.

Background

Features of Parkinsonism have been described in ALS and there is evidence of decreased striatal dopaminergic function in ALS. However PD and ALS rarely present together. Brait-Fahn-Schwartz Disease is a neurodegenerative overlap complex presenting with a levodopa responsive PD followed by ALS.

Design/Methods

Not Applicable

Results A 56-year-old male with a two-year history of PD on a stable dose of Carbidopa/Levodopa presented with shortness of breath and unintentional weight loss for the past one year. Outpatient cardiopulmonary work up was unremarkable. Family history was noncontributory. On examination resting tremor of right hand was noted with diffuse fasciculations involving trunk and all extremities. Laboratory tests were normal except for an M-spike on Serum Protein Electrophoresis (SPEP) diagnosed as Monoclonal Gammopathy of Undetermined Significance (MGUS). MRI of cervical spine was indicative of vertebral marrow hypertrophy suggesting a possible lymphoproliferative disorder. Electromyography (EMG) revealed a neurogenic pattern of denervation with chronic re-innervation in all extremities. Our patient was diagnosed with ALS and riluzole was started which had to be discontinued due to worsening of his symptoms. The clinical condition of the patient continued to deteriorate and he expired due to respiratory failure.

Conclusions

Our investigations support the idea that the association between PD and ALS in Brait-Fahn-Schwartz Disease may not be co-incidental. A coexisting benign lymphoproliferative disorder suggests an underlying genetic mechanism. Only few cases have been reported so far and this is the first in the US. Further molecular and clinical studies are needed and this may be an unidentified syndrome.

Authors/Disclosures
Sushant Puri, MBBS (Oregon Health & Science University (OHSU)) PRESENTER	Dr. Puri has nothing to disclose.
Michael Carrithers, MD, PhD (University of Illinois College of Medicine)	The institution of Dr. Carrithers has received research support from Biogen.

��ɫ��

��ɫ��