In 1998, in my early 50s, my initial symptoms were leg cramps, stiffness and heaviness in my legs, muscle twitching and soreness, foot drag, and. Adult polyglucosan body disease research foundation apbdrf. January 20th, 2020 pedaling for progress in apbd research. Frozen muscle may be safely shipped overnight with adequate dry ice. Nov 29, 2017 the doctors doctor, a web site created by pathologists, has developed an information page on adult polyglucosan body disease which can be accessed by clicking on the link above. Misdiagnosis of apbd may lead to unnecessary investigations and to potentially harmful therapeutic interventions. When checking for a misdiagnosis of adult polyglucosan body disease or confirming a diagnosis of adult polyglucosan body disease, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. They are important differential considerations when assessing adults with white matter diseases terminology. The foundation is dedicated to increasing public awareness and understanding of apbd, especially in the atrisk ashkenazi jewish community, among ms sufferers, and across. Direct examination of tissue by a pathologist electron and light microscopy can.
No cure for rare numbing disease that plagues jews the. Skills download ebook usmle download medical atlas books download medical book download medical book free download medical books free download pathology book emergency emergency neuroradiology functional mri techniques histopathology interventional critical care lung. Kazuyuki uchida, laboratory of veterinary pathology, graduate school of agricultural and. Unusual demyelinating pathology in a case of adult polyglucosan body disease. Muscle may be saved in saline moistened gauze for several hours. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme gbe deficiency. Scientific advisory board the scientific advisory board is comprised of world leading scientists, physicians and educators in genetic neurological disease research and clinical care. Although rare, small polyglucosan bodies may be encountered in peripheral nerves within normal asymptomatic patients, multiple, large polyglucosan bodies are considered indicative of polyglucosan body disease, a multisystem disorder probably related to type iv glycogen storage disease andersen disease, brancher enzyme deficiency. Comes with free access to the fullysearchable downloadable e book, including an image bank. It derives its name from the accumulation of rounded intraaxonal inclusion bodies in the central and peripheral nervous system.
Adult polyglucosan body disease apgbd was first described in 19801 and remains a rare neurological disease with some 25 cases so far reported table. The clinical features included muscle weakness, sensory disturbances, neurogenic bladder, dementia, and cataracts. Lefkowitch 2 1 department of pathology, new york university langone medical center, new york, new york. This indicated a need for gbe1 sequencing, which revealed a novel missense. Glycogen storage disease type iv is an autosomal recessive genetic disorder which results due to deficiency of glycogen branching enzyme gbe during glycogenesis, the branching enzyme introduces branches to growing glycogen chains by transferring. Listing a study does not mean it has been evaluated by the u. Jul 21, 2015 adult polyglucosan body disease apbd is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and neurogenic bladder. Probable adult polyglucosan body disease mayo clinic proceedings. The 4 novel missense mutations are likely pathogenic.
Adult polyglucosan body disease associated with an. Statistics of adult polyglucosan body disease apbd map. Adult polyglucosan body disease apbd is a rare, genetic disorder characterized by a deficiency of glycogenbranching enzyme, resulting in the accumulation of polyglucosan bodies in muscle, nerve and various other tissues of the body. In most affected individuals, symptoms and findings become evident in the first months of life. Their fields of expertise include neurology, cell research and immunology, clinical pathology, and genetic research. Veterinary pathology accumulation of laforin and other. Initial symptoms of the disorder include numbness and tingling in the legs peripheral neuropathy and progressive muscle weakness and stiffness. More detailed information about the symptoms, causes, and treatments of adult polyglucosan body disease is available below symptoms of adult polyglucosan body disease. Andersen disease gsd iv nord national organization.
Inclusion polyglucosan bodies are found in muscle, heart, liver, and brain in both adult polyglucosan disease and the typical childhood form. Adult polyglucosan body disease apbd is a lateonset autosomalrecessive metabolic disorder due to deficiency of the glycogen branching enzyme gbe. Andersen disease is also known as glycogen storage disease gsd type iv. It is very progressive, meaning that symptoms worsen as time goes on. Adult polyglucosan body disease apbd is a condition that affects the nervous system. Abstract we describe a case of adult polyglucosan body disease with.
Statistics of adult polyglucosan body disease apbd map check how this condition affects the daily life of people who suffer it. More rarely, pgbs have been also reported in pathological disorders with cns involvement in adult patients 9, 14, namely, in alslike athetosis and adult polyglucosan body disease apgbd 5, 9, 14. Adult polyglucosan body disease symptoms, diagnosis. Freeze most tissue in isopentane precooled to 160 o c in liquid nitrogen.
Currently, adult polyglucosan body disease may not be preventable, since it is a genetic disorder. In 2011 i was diagnosed with a rare genetic disease called adult polyglucosan body disease apbd. Globs of a carbohydrate called polyglucosan accumulate in astrocytes in apbd. The list of signs and symptoms mentioned in various sources for adult polyglucosan body disease includes the 9 symptoms listed below. World map of adult polyglucosan body disease apbd find people with adult polyglucosan body disease apbd through the map. A novel neuromuscular form of glycogen storage disease type iv characterized by spinal stiffness, arthrogrypotic features.
Adult polyglucosan body disease apbd is a rare neurogenetic disorder that is clinically characterized by progressive pyramidal paraparesis, distal sensory deficit in the legs, and neurogenic bladder beginning in the 5th or 6th decade of life. A mutation in the gene that encodes for a novel protein tyrosine phosphatase. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes. The author is an international expert in nerve pathology. Adult polyglucosan body disease apbd is a rare disorder that affects the nervous system. The orphan disease center awards two research grants for adult polyglucosan body disease apbd january 24th, 2020 congratulations from disorder. Jensflorian when susan coddon, a member of the board of directors of the adult polyglucosan body disease research foundation emailed me a few weeks ago, i was intrigued. Triheptanoin treatment trial for patients with adult. At autopsy, extensive polyglucosan body formation was found in many regions of the central nervous system. Light and electron microscopy of the nervous system showed numerous polyglucosan bodies in the processes. It is caused by deficient activity of the glycogenbranching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, andor other tissues. It is suggested that this is a type of adult polyglucosan body disease which probably forms a variant of laforas disease.
Polyglucosan bodies are composed of large, complex, sugarbased molecules. Adult polyglucosan body disease nord national organization. The eponym andersens disease is sometimes used, for dorothy hansine andersen. Adult polyglucosan body disease is a condition that affects the nervous system. Polyglucosan bodies are prominent in subcortical cerebral white matter, as well as in a perivascular distribution in gray matter, cerebellum, spinal cord, and peripheral nerve table 19. Glycogen storage disease type iv gsd iv is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body s cells. Triheptanoin diet for adult polyglucosan body disease apbd.
Adult polyglucosan disease is a progressive neurogenetic disorder characterized by neurogenic bladder, progressive difficulty with walking, and sensory abnormalities in the lower extremities which typically present in the 4th or 5th decade of life. Unusual demyelinating pathology in a case of adult polyglucosan. Frequent misdiagnosis of adult polyglucosan body disease. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. There are five types of gsd iv, which are distinguished by their severity, signs, and symptoms. Adult polyglucosan body disease presenting as a unilateral. Adult leukodystrophies radiology reference article. We describe a case of adult polyglucosan body disease. The exact prevalence of adult polyglucosan body disease apbd is unknown, but the disease is considered rare. Medical genetics test details baylor genetics laboratories. Polyglucosan bodies are the pathologic hallmark of this disease.
Glycogen storage disease type iv genetics home reference. People with apbd typically first experience signs and symptoms related to the condition between ages 35 and 60. Join the adult polyglucosan body disease apbd community. Thieme ejournals seminars in liver disease abstract. Pathology and genetics is a definitive, clinicallyoriented guide to the pathology of peripheral nerve disorders. Polyglucosan definition of polyglucosan by medical. Polyglucosan body disease definition of polyglucosan body. Damage to the nerves that control bladder function, a condition called neurogenic bladder. Personal narratives adult polyglucosan body disease.
Also called amylopectinosis, andersen disease, adult polyglucosan body disease rare, autosomal recessive, caused by deficiency of glycogen branching enzyme on 3p14, leading to excessive deposition of structurally abnormal, amylopectinlike glycogen in affected tissues, causing irreversible tissue and organ damage j inherit metab dis 2010. Adult polyglucosan body disease archives of pathology. Percy, in neuromuscular disorders of infancy, childhood, and adolescence second edition, 2015. The dementia of apbd affects cortical and subcortical functions. Adult polyglucosan body disease apbd is a rare, genetic disorder. A condition which is a glycogen storage disease causing hepatosplenomegaly and failure to thrive. How can adult polyglucosan body disease be prevented. All had signs of peripheral neuropathy, upper motor neuron signs, and 12 of the 15 had sphincter problems. Nov 22, 2015 no cure for rare numbing disease that plagues jews one in 68 ashkenazi jews is a carrier of at least one of the two gene mutations that cause adult polyglucosan body disease, a frequently. Adult polyglucosan disease has been described in 15 cases. Muscle should not be immersed in saline, fixative or other liquids. Adult polyglucosan body disease apbd is an autosomal recessive.
A type of adult polyglucosan body disease springerlink. The leukodystrophies are a group of inherited white matter disorders with diverse genetic backgrounds and substantial phenotypic variability. Adult polyglucosan body disease is a chronically progressive neurological disease first described in 1980. Adult polyglucosan body disease genetic and rare diseases. Because so many unknowns still exist for people with apbd, gregory weiss, a patient himself, founded the adult polyglucosan body disease research foundation apbdrf in 2005. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. Glycogen storage disease type iv gsd type iv is an extremely rare condition, representing only 0. This diagnosis was made about years after i first experienced symptoms with my feet and hands. What is the prevalence of adult polyglucosan body disease apbd. Adult polyglucosan disease, which is a variant of type iv glycogen storage disease anderson disease. 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. Although this book is probably most useful to neuropathologists and other diagnosticians who sign out nerve biopsies on a regular basis, it is also useful to introduce concepts of nerve pathology to medical students, residents, and clinicians interested in peripheral neuropathy.
Gbe1 mutation in manifesting heterozygous patients with adult. Adult polyglucosan body disease apbd is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems. Polyglucosan bodies in the nervous system and other viscera are the main findings at autopsy of a 64yearold woman who had a chronic neurologic disorder of 20 years duration. Adult polyglucosan body disease, another genetic disease with development of polyglucosan bodies in the nervous system, is caused by glycogen branching enzyme. Genetic and rare diseases information center gard of national center for advancing translational sciences ncats, usa. Adult polyglucosan body disease apbd is characterized after 50 years of age by the onset of progressive pyramidal paraparesis, distal sensory deficits, neurogenic bladder, ambulation loss, and premature death owing to complications of myelopathy and peripheral neuropathy. The neuromuscular disease center of washington university web site outlines a variety of neurological conditions including polyglucosan body disease. To characterize the dementia associated with adult polyglucosan body disease apbd and to correlate the cognitive deficits with abnormalities found on magnetic resonance imaging mri.
Adult polyglucosan body disease apbd is an autosomal. It should be noted that the term leukodystrophy and which conditions are considered to be. Sequence analysis is performed in both forward and reverse directions. Color atlas of peripheral nerve pathology edition 1 by shin. A rare presentation with chronic liver disease and groundglass hepatocellular inclusions cristina h. People with this condition have problems walking due to reduced sensation in their legs peripheral neuropathy and progressive muscle weakness and stiffness spasticity. It occurs most frequently is due to a tyr329ser mutation in the gbe gene. At least 70 people with apbd have been reported in the medical literature. More detailed information about the symptoms, causes, and treatments of adult polyglucosan body disease is available below.
Study of adult polyglucosan body disease apbd initially diagnosed as multiple sclerosis seth a. Jul 28, 2009 triheptanoin treatment trial for patients with adult polyglucosan body disease the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. We present a case of probable adult polyglucosan body disease based on. A characteristic symptom of this disease is problems walking because of a reduced sensation in the legs. Familial dementia due to adult polyglucosan body disease. No cure for rare numbing disease that plagues jews one in 68 ashkenazi jews is a carrier of at least one of the two gene mutations that cause adult polyglucosan body disease, a frequently.
Wo 2011159634 pctus2011040234 1 triheptanoin diet for adult polyglucosan body disease apbd treatment technical field of the invention the present invention relates in general to the field of treatment agents for metabolic disorders, and more particularly to the use of diet comprising triheptanoin for the treatment of adult polyglucosan body disease 5 apbd. Adult polyglucosan body disease medigoo health medical tests. Adultonset leukodystrophies are uncommon compared to those that present in childhood and in most instances are a delayed and atypical presentation of conditions more common in childhood. The pathophysiology of increased numbers and size of polyglucosan bodies in. Mutations in gbe1 can also cause a milder disease in adults called adult polyglucosan body disease. We reported 2 cases that contained these clinical features. A common missense mutation in the glycogen branching enzyme gbe1 gene has been identi. Polyglucosan body disease, adult conditions gtr ncbi. A similar clinicopathologic presentation has been described in six previous cases.
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