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Background

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.

OUTLINE

Epidemiology  
Disease Associations  
Pathogenesis  
Laboratory/Radiologic/Other Diagnostic Testing  
Gross Appearance and Clinical Variants  
Histopathological Features and Variants  
Special Stains/
Immunohistochemistry/
Electron Microscopy
 
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

 

PATHOGENESIS CHARACTERIZATION

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;44:867872.


RADIOLOGY/
LABORATORY
CHARACTERIZATION
MRI  
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

BRAIN  
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.
LEWY BODIES  
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.
PERIPHERAL NERVE

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;29:448451

Identified inclusions in the myoepithelial cells of the apocrine sweat glands

Adult Polyglucosan Body Disease Diagnosis by Sural Nerve and Skin Biopsy

Petra Milde,etal.

Arch Pathol Lab Med 2001; 125:519522. 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;29:265295.

Type IV glycogenosis and Lafora disease

  Polyglucosan bodies have also been described in inflammatory demyelinating polyneuropathy and diabetic neuropathy

Brain 1980;103:315336.
J Neurol Neurosurg Psychiatry 1998;65:788790.
Henry JB. Clinical Diagnosis and Management by Laboratory Methods. Twentieth Edition. WB Saunders. 2001.
Rosai J. Ackerman's Surgical Pathology. Ninth Edition. Mosby 2004.
Sternberg S. Diagnostic Surgical Pathology. Fourth Edition. Lipincott Williams and Wilkins 2004.
Robbins Pathologic Basis of Disease. Seventh Edition. WB Saunders 2005.
DeMay RM. The Art and Science of Cytopathology. Volume 1 and 2. ASCP Press. 1996.
Weedon D. Weedon's Skin Pathology Second Edition. Churchill Livingstone. 2002
Fitzpatrick's Dermatology in General Medicine. 5th Edition. McGraw-Hill. 1999.
Weiss SW and Goldblum JR. Enzinger and Weiss's Soft Tissue Tumors. Fourth Edition. Mosby 2001.


Commonly Used Terms

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Commonly Used Terms
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Diagnostic Process
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Surgical Pathology Report
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Special Stains
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Got Path?
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Last Updated June 8, 2005

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