Adult polyglucosan body disease associated with lewy bodies and tremor.
BACKGROUND
Adult polyglucosan body disease (PGBD) is rare and typically presents with upper and lower motor neuron involvement and neurogenic bladder. Extrapyramidal features are unusual in PGBD and are presumed secondary to widespread pathology that includes the basal ganglia. There are no prior reports of Lewy bodies in PGBD.


OBJECTIVE
To report a unique finding of Lewy bodies in a patient with PGBD. REPORT OF A CASE A 46-year-old woman initially presented with a 4-year history of resting tremor. The tremor responded to levodopa therapy. Several months later, she developed upper and lower motor neuron involvement and other clinical features of PGBD. A sural nerve biopsy specimen revealed intra-axonal polyglucosan bodies that confirmed the clinical diagnosis. Bulbar and limb weakness progressed, and she developed dementia. She died 6 years after onset. At autopsy, extensive polyglucosan body formation was found in many regions of the central nervous system. In addition, numerous alpha-synuclein staining Lewy bodies were observed in the substantia nigra, accompanied by marked neuron depopulation.


CONCLUSIONS
To our knowledge, this is the first report of adult PGBD associated with Lewy bodies and levodopa-responsive tremor. Although polyglucosan bodies were seen in substantia nigra, it is most likely that our patient had coexisting Parkinson disease.
Trivedi
Jaya R
JR
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, 75390, USA.
Wolfe
Gil I
GI
Nations
Sharon P
SP
Burns
Dennis K
DK
Bryan
Wilson W
WW
Dewey
Richard B
RB
D001480:Basal Ganglia Diseases / Q000150:complications / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005936:Glucans / Q000032:analysis*; D006801:Humans; D016631:Lewy Bodies / Q000473:pathology*; D008875:Middle Aged; D010300:Parkinson Disease / Q000150:complications / Q000473:pathology; D013378:Substantia Nigra / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology; D014202:Tremor / Q000150:complications / Q000473:pathology*
D005936:Glucans; C083094:polyglucosan