Adult polyglucosan body disease is a rare, chronically progressive neurological disease characterized by adult onset, sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and dementia. The disorder has characteristic inclusions, identified by the pathologist, usually with a biopsy of the sural nerve biopsy. Similar inclusions have been identified in myoepithelial cells of apocrine glands.
Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing Gross Appearance and Clinical Variants Histopathological Features and Variants Special Stains/
Differential Diagnosis Prognosis Treatment Commonly Used Terms Internet Links
EPIDEMIOLOGY CHARACTERIZATION INCIDENCE <30 cases reported
DISEASE ASSOCIATIONS CHARACTERIZATION Familial clustering Familial clustering is observed in 30% of cases
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
Lossos, A, Z Meiner, and V Barash. et al.
Ann Neurol 1998;44:867–872.
- Extensive white-matter changes in case of adult polyglucosan body disease.
Berkhoff M, Weis J, Schroth G, Sturzenegger M.
Department of Neurology, Inselspital, Berne, Switzerland.
Neuroradiology. 2001 Mar;43(3):234-6. Abstract quote
Extensive white matter signal changes were observed on T2-weighted images of a 49-year-old man.
He presented with a slowly progressive gait disorder, and finally developed severe dementia. Extensive metabolic and infectious investigations failed to disclose the underlying cause during life. Autopsy revealed adult polyglucosan body disease.
We discuss MRI findings likely to permit this diagnosis if combined with clinical findings and nerve or skin biopsy.
CLINICAL VARIANTS CHARACTERIZATION
- Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome.
Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ.
Department of Neurology, Mayo Clinic and Mayo Foundation, 200 First Street SW, Rochester, Minnesota 55905, USA.
Muscle Nerve. 2004 Feb;29(2):323-8. Abstract quote
A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation.
A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates.
These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD.
HISTOLOGICAL TYPES CHARACTERIZATION General
Polyglucosan bodies are the pathologic hallmark of this disease.
Intra-axonal basophilic inclusions ranging from 5 to 70 m in diameter
- Adult polyglucosan body disease.
Wierzba-Bobrowicz T, Stroinska-Kus B.
Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw.
Folia Neuropathol. 1994;32(1):37-41. Abstract quote
A 45-years old unconscious woman was admitted to the hospital, where she died 3 days later. For the preceding month she had suffered from a headache. She had no past medical history. Cerebrospinal fluid pressure was increased, there were 350 mg/100 of protein, and 105 mg/100 of glucose.
Neuropathological examination revealed that the main microscopic abnormality was massive accumulation of PAS-positive polyglucosan bodies (PB) in the cerebral hemispheres, brain stem and cerebellum. These bodies were found most frequently around the vessels, or diffusely in the nervous tissue beneath the pia, particularly in depth of the cortical sulci. They were observed in the processes of nerve cells, astrocytes, and microglia cells. The material stored in PB was strongly positive in PAS, and PAS-dimedone, weakly stained in H&E, the reaction to GFAP, RCA-1 and Bielschowsky methods appeared rather on PB periphery.
The neuropathologic features are consistent with adult polyglucosan body disease and are distinctive from other conditions in which PB may accumulate.
- Adult polyglucosan body disease associated with lewy bodies and tremor.
Trivedi JR, Wolfe GI, Nations SP, Burns DK, Bryan WW, Dewey RB Jr.
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, 75390, USA.
Arch Neurol. 2003 May;60(5):764-6. Abstract quote
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.
In a nerve biopsy, more than 1 polyglucosan body per fascicular cross section, polyglucosan bodies outside an axon, unusually large polyglucosan bodies (larger than 30 m), or polyglucosan bodies in a young patient (younger than 20 years) should lead to consideration of these diseases
One or two polyglucosan bodies in a single nerve biopsy specimen are considered a nonspecific finding
SKIN Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy
Ann Neurol 1991;29:448–451
Identified inclusions in the myoepithelial cells of the apocrine sweat glands
Adult Polyglucosan Body Disease Diagnosis by Sural Nerve and Skin Biopsy
Arch Pathol Lab Med 2001; 125:519–522. Abstract quote
We describe a case of adult polyglucosan body disease with characteristic clinical symptoms of peripheral neuropathy, upper motor neuron signs, and bowel and bladder dysfunction.
Sural nerve biopsy revealed diagnostic intra-axonal polyglucosan bodies. On electron microscopic examination, the inclusions were located mainly within myelinated nerve fibers and consisted of branched filaments that were 6 to 8 nm wide. The diagnosis of adult polyglucosan body disease was confirmed by a skin biopsy from the axilla showing similar inclusions in myoepithelial cells of apocrine glands.
This report provides additional evidence that skin biopsy, to date advocated by a single case report only, may be a less invasive and simpler diagnostic alternative to sural nerve or brain biopsies.
DIFFERENTIAL DIAGNOSIS KEY DIFFERENTIATING FEATURES POLYGLUCOSAN BODIES
Brain Res Brain Res Rev 1999;29:265–295.
Type IV glycogenosis and Lafora disease
Polyglucosan bodies have also been described in inflammatory demyelinating polyneuropathy and diabetic neuropathy
J Neurol Neurosurg Psychiatry 1998;65:788–790.
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