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Polyglucosan body disease, adult(APBD)

MedGen UID:
342338
Concept ID:
C1849722
Disease or Syndrome
Synonyms: APBD; Polyglucosan body disease, adult form
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: GBE1
Cytogenetic location: 3p12.2
OMIM: 263570

Disease characteristics

Excerpted from the GeneReview: Adult Polyglucosan Body Disease
Adult polyglucosan body disease (APBD) is characterized by adult-onset progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement, sensory loss predominantly in the distal lower extremities, and mild cognitive difficulties (often executive dysfunction). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Christopher J Klein   view full author information

Additional description

From GHR
Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. About half of people with adult polyglucosan body disease experience a decline in intellectual function (dementia). People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60.  http://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease

Clinical features

Neurogenic bladder
MedGen UID:
424975
Concept ID:
CN000012
Finding
An inability to completely empty the `urinary bladder` (FMA:15900) during the process of `urination` (GO:0060073) owing to a neurological condition.
Abnormal renal physiology
MedGen UID:
489768
Concept ID:
CN168062
Finding
An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `kidney` (FMA:7203).
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Abnormality of extrapyramidal motor function
MedGen UID:
505080
Concept ID:
CN001873
Finding
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Tetraparesis
MedGen UID:
505179
Concept ID:
CN002063
Finding
Weakness of all four limbs.
Developmental regression
MedGen UID:
505217
Concept ID:
CN002158
Finding
Loss of developmental skills, as manifested by loss of developmental milestones.
Abnormality of the cerebral white matter
MedGen UID:
425101
Concept ID:
CN002271
Finding
An abnormality of the `cerebral white matter` (FMA:241998).
Paresthesia
MedGen UID:
505532
Concept ID:
CN003069
Finding
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Hemiplegia/hemiparesis
MedGen UID:
446595
Concept ID:
CN003873
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Peripheral neuropathy
MedGen UID:
506330
Concept ID:
CN008687
Finding
Peripheral neuropathy is a general term for any disorder of the `peripheral nervous system` (FMA:9903). The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.

Recent clinical studies

Etiology

Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S
JAMA Neurol 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. PMID: 24248152
Billot S, Hervé D, Akman HO, Froissart R, Baussan C, Claeys KG, Piraud M, Sedel F, Mochel F, Laforêt P
J Neurol Sci 2013 Jan 15;324(1-2):179-82. Epub 2012 Nov 10 doi: 10.1016/j.jns.2012.10.015. [Epub ahead of print] PMID: 23146612
Sindern E, Ziemssen F, Ziemssen T, Podskarbi T, Shin Y, Brasch F, Müller KM, Schröder JM, Malin JP, Vorgerd M
Neurology 2003 Jul 22;61(2):263-5. PMID: 12874416
Leel-Ossy L, Gáti I
Pathol Oncol Res 1998;4(3):212-6. PMID: 9761940
Busard HL, Gabreëls-Festen AA, Renier WO, Gabreëls FJ, Joosten EM, van 't Hof MA, Rensing JB
Ann Neurol 1991 Apr;29(4):448-51. doi: 10.1002/ana.410290420. PMID: 1656844

Diagnosis

Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F
Gene 2013 Feb 25;515(2):376-9. Epub 2012 Dec 21 doi: 10.1016/j.gene.2012.12.065. [Epub ahead of print] PMID: 23266647
Billot S, Hervé D, Akman HO, Froissart R, Baussan C, Claeys KG, Piraud M, Sedel F, Mochel F, Laforêt P
J Neurol Sci 2013 Jan 15;324(1-2):179-82. Epub 2012 Nov 10 doi: 10.1016/j.jns.2012.10.015. [Epub ahead of print] PMID: 23146612
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A
Ann Neurol 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. PMID: 23034915
Segers K, Kadhim H, Colson C, Duttmann R, Glibert G
Alzheimer Dis Assoc Disord 2012 Jan-Mar;26(1):96-9. doi: 10.1097/WAD.0b013e31821cc65d. PMID: 21572310
Hajdu CH, Lefkowitch JH
Semin Liver Dis 2011 May;31(2):223-9. Epub 2011 May 2 doi: 10.1055/s-0031-1276649. PMID: 21538287

Therapy

Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S
JAMA Neurol 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. PMID: 24248152
Roe CR, Bottiglieri T, Wallace M, Arning E, Martin A
Mol Genet Metab 2010 Oct-Nov;101(2-3):246-52. Epub 2010 Jul 6 doi: 10.1016/j.ymgme.2010.06.017. [Epub ahead of print] PMID: 20655781

Prognosis

Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S
JAMA Neurol 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. PMID: 24248152
Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F
Gene 2013 Feb 25;515(2):376-9. Epub 2012 Dec 21 doi: 10.1016/j.gene.2012.12.065. [Epub ahead of print] PMID: 23266647
Farmer JG, Crain BJ, Harris BT, Turner RS
Neurocase 2013;19(1):67-75. Epub 2012 Apr 16 doi: 10.1080/13554794.2011.654217. [Epub ahead of print] PMID: 22506890Free PMC Article
Hajdu CH, Lefkowitch JH
Semin Liver Dis 2011 May;31(2):223-9. Epub 2011 May 2 doi: 10.1055/s-0031-1276649. PMID: 21538287
Trivedi JR, Wolfe GI, Nations SP, Burns DK, Bryan WW, Dewey RB Jr
Arch Neurol 2003 May;60(5):764-6. doi: 10.1001/archneur.60.5.764. PMID: 12756142

Clinical prediction guides

Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A
J Neurochem 2013 Oct;127(1):101-13. Epub 2013 May 9 doi: 10.1111/jnc.12277. [Epub ahead of print] PMID: 23607684
Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F
Gene 2013 Feb 25;515(2):376-9. Epub 2012 Dec 21 doi: 10.1016/j.gene.2012.12.065. [Epub ahead of print] PMID: 23266647
Billot S, Hervé D, Akman HO, Froissart R, Baussan C, Claeys KG, Piraud M, Sedel F, Mochel F, Laforêt P
J Neurol Sci 2013 Jan 15;324(1-2):179-82. Epub 2012 Nov 10 doi: 10.1016/j.jns.2012.10.015. [Epub ahead of print] PMID: 23146612
Hajdu CH, Lefkowitch JH
Semin Liver Dis 2011 May;31(2):223-9. Epub 2011 May 2 doi: 10.1055/s-0031-1276649. PMID: 21538287
Trivedi JR, Wolfe GI, Nations SP, Burns DK, Bryan WW, Dewey RB Jr
Arch Neurol 2003 May;60(5):764-6. doi: 10.1001/archneur.60.5.764. PMID: 12756142

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