Adult polyglucosan body disease

Adult polyglucosan body disease
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Peripheral neuropathy, cognitive impairment, urinary incontinence, gait disturbances
Complications	N/A
Onset	Adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the GBE1 gene
Risks	Autosomal recessive inheritance
Diagnosis	Genetic testing, nerve biopsy
Differential diagnosis	Amyotrophic lateral sclerosis, multiple sclerosis, Alzheimer's disease
Prevention	N/A
Treatment	Supportive care, physical therapy, occupational therapy
Medication	N/A
Prognosis	Progressive disease with variable outcomes
Frequency	Rare
Deaths	N/A

A rare genetic disorder affecting the nervous system

Adult polyglucosan body disease (APBD) is a rare genetic disorder characterized by the accumulation of polyglucosan bodies in the nervous system. It primarily affects adults and leads to a range of neurological symptoms.

Pathophysiology

APBD is caused by mutations in the glycogen branching enzyme (GBE1) gene, which leads to the abnormal formation of glycogen molecules. These molecules accumulate as polyglucosan bodies, which are insoluble and disrupt normal cellular function. The accumulation occurs predominantly in the central nervous system and peripheral nerves.

Clinical Presentation

Patients with APBD typically present in adulthood, often in their 40s or 50s. Common symptoms include:

• Progressive gait disturbance
• Urinary incontinence
• Cognitive impairment
• Peripheral neuropathy

Diagnosis

The diagnosis of APBD is based on clinical evaluation, genetic testing, and histopathological examination. A definitive diagnosis is made by identifying mutations in the GBE1 gene and observing polyglucosan bodies in tissue samples.

Histopathology

Histopathological examination reveals the presence of polyglucosan bodies in nerve tissue. These bodies are periodic acid-Schiff (PAS) positive and are typically found in the white matter of the brain and spinal cord.

Genetics

APBD is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease.

Diagram illustrating autosomal recessive inheritance.

Management

There is currently no cure for APBD. Management focuses on symptomatic treatment and supportive care. This may include:

• Physical therapy to improve mobility
• Occupational therapy to assist with daily activities
• Medications to manage urinary symptoms and neuropathic pain

Prognosis

The progression of APBD is variable, but it generally leads to significant disability over time. The rate of progression and severity of symptoms can vary widely among individuals.

Research Directions

Ongoing research is focused on understanding the molecular mechanisms of APBD and developing potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.

Related pages

• Glycogen storage disease
• Peripheral neuropathy
• Genetic disorder
• Neurology