Monday, May 11, 2009

APBD Adult polyglucosan body disease


Neurology 2009; 72: 1609-1613 (CPC)
Jewish diseases with leukoencephalopathy:
APBD--Ashkenazi
megelencephalic encephalopathy with subcortical cysts-- Libyan
mitochondrial neurogastrointestinal encephalomyelopathy-- Ashkenazi and Libyan
cerebrotendinous xanthomatosis-- Moroccan
metachromatic leukodystrophy-- Yemenite
Canavan disease
mucolipidosis type IV

APBD-- uniquely occurs in 50 yo with CNS and PNS involvement
AR
diagnosis with skin.fibroblasts measurement of glycogen branching enzyme activity
Genetic spectrum well beyond Ashkenazi Jews. Allelic to type 4 glycogen storage disease. Unlike glycogen storage, liver is affected in kids.

Clinical
progressive late onset spastic paraparesis, progressive, neurogenic bladder, sensorimotor neuropathy with painful feet. Cognitive involvement even dementia is common.
CSF normal
MRI progressive involvement of hemisphere and PVWM, post limb of ic, brainstem tracts, sparing of corpus callosum and u fibers. Lesions are hyperintense on T2 and not enhancing. Atrophy of spinal cord is early and invariable. Sural nerve biopsy or axillary apocrine biopsy are diagnostic of polyglucosan bodies.

1 comment:

Amy said...

I am a physical therapist treating a patient with this disease- what is the research out there for interventions? I am treating it like a progressive MS or ALS- giving exercise to tolerance but not fatigue and providing this pt. with energy conservation strategies and planning for progressive weakness.