MCID: PLY158
MIFTS: 29

Polyglucosan Body Neuropathy, Adult Form

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Polyglucosan Body Neuropathy, Adult Form

MalaCards integrated aliases for Polyglucosan Body Neuropathy, Adult Form:

Name: Polyglucosan Body Neuropathy, Adult Form 57 75
Polyglucosan Body Disease, Adult Form 57 75 13 73
Apbd 57 59 75
Adult Polyglucosan Body Disease 59 75
Apbn 57 75
Polyglucosan Body Disease, Adult Form; Apbd 57

Characteristics:

Orphanet epidemiological data:

59
adult polyglucosan body disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset after age 40 years
loss of ambulation in mid-sixties
high frequency among individuals of ashkenazi jewish descent


HPO:

32
polyglucosan body neuropathy, adult form:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 263570
Orphanet 59 ORPHA206583
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 74 C1849722
MedGen 42 C1849722
MeSH 44 D009422
UMLS 73 C1849722

Summaries for Polyglucosan Body Neuropathy, Adult Form

OMIM : 57 Adult polyglucosan body neuropathy is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes (summary by Lossos et al., 1998). (263570)

MalaCards based summary : Polyglucosan Body Neuropathy, Adult Form, also known as polyglucosan body disease, adult form, is related to adult polyglucosan body disease, and has symptoms including difficulty passing urine and upper motor neuron signs. An important gene associated with Polyglucosan Body Neuropathy, Adult Form is GBE1 (1,4-Alpha-Glucan Branching Enzyme 1). Affiliated tissues include spinal cord, skin and liver, and related phenotypes are neurogenic bladder and gait disturbance

UniProtKB/Swiss-Prot : 75 Polyglucosan body neuropathy, adult form: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.

Related Diseases for Polyglucosan Body Neuropathy, Adult Form

Diseases related to Polyglucosan Body Neuropathy, Adult Form via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adult polyglucosan body disease 11.4

Symptoms & Phenotypes for Polyglucosan Body Neuropathy, Adult Form

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
gait disturbance
cognitive impairment
spastic paraplegia
neurogenic bladder
upper motor neuron signs
more
Neurologic Peripheral Nervous System:
distal sensory impairment
peripheral axonal neuropathy
paresthesias

Cardiovascular Vascular:
orthostatic hypotension (in some patients)

Genitourinary Bladder:
neurogenic bladder
micturition difficulties

Head And Neck Eyes:
saccadic movements (in some patients)

Laboratory Abnormalities:
decreased or absent glycogen branching enzyme activity


Clinical features from OMIM:

263570

Human phenotypes related to Polyglucosan Body Neuropathy, Adult Form:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurogenic bladder 59 32 Very frequent (99-80%) HP:0000011
2 gait disturbance 59 32 Very frequent (99-80%) HP:0001288
3 distal sensory impairment 59 32 Frequent (79-30%) HP:0002936
4 urinary incontinence 59 Very frequent (99-80%)
5 behavioral abnormality 59 Frequent (79-30%)
6 dementia 59 Occasional (29-5%)
7 intellectual disability 59 Very frequent (99-80%)
8 ataxia 59 Occasional (29-5%)
9 spasticity 59 Very frequent (99-80%)
10 hemiparesis 59 Very frequent (99-80%)
11 muscle weakness 59 Very frequent (99-80%)
12 limitation of joint mobility 59 Occasional (29-5%)
13 abnormality of extrapyramidal motor function 59 Occasional (29-5%)
14 urinary bladder sphincter dysfunction 59 Very frequent (99-80%)
15 emg abnormality 59 Occasional (29-5%)
16 abnormal pyramidal signs 59 Very frequent (99-80%)
17 peripheral neuropathy 59 Very frequent (99-80%)
18 skin ulcer 59 Frequent (79-30%)
19 spastic paraplegia 32 HP:0001258
20 orthostatic hypotension 32 occasional (7.5%) HP:0001278
21 abnormality of metabolism/homeostasis 32 HP:0001939
22 abnormal upper motor neuron morphology 32 HP:0002127
23 tetraparesis 32 HP:0002273
24 abnormality of the cerebral white matter 32 HP:0002500
25 paresthesia 32 HP:0003401
26 peripheral axonal neuropathy 32 HP:0003477
27 cognitive impairment 32 HP:0100543

UMLS symptoms related to Polyglucosan Body Neuropathy, Adult Form:


difficulty passing urine, upper motor neuron signs

Drugs & Therapeutics for Polyglucosan Body Neuropathy, Adult Form

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Completed NCT00947960 Phase 2 Triheptanoin

Search NIH Clinical Center for Polyglucosan Body Neuropathy, Adult Form

Genetic Tests for Polyglucosan Body Neuropathy, Adult Form

Anatomical Context for Polyglucosan Body Neuropathy, Adult Form

MalaCards organs/tissues related to Polyglucosan Body Neuropathy, Adult Form:

41
Spinal Cord, Skin, Liver, Brain

Publications for Polyglucosan Body Neuropathy, Adult Form

Articles related to Polyglucosan Body Neuropathy, Adult Form:

(show all 47)
# Title Authors Year
1
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. ( 28265589 )
2017
2
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease. ( 28827282 )
2017
3
Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease. ( 28507268 )
2017
4
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome. ( 29110179 )
2017
5
Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease. ( 26670585 )
2016
6
Adult polyglucosan body disease presenting as a unilateral progressive plexopathy. ( 26789422 )
2016
7
Frequent misdiagnosis of adult polyglucosan body disease. ( 26194201 )
2015
8
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease. ( 25544507 )
2015
9
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family. ( 25728520 )
2015
10
Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease. ( 25665141 )
2015
11
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. ( 24750115 )
2014
12
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. ( 23266647 )
2013
13
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. ( 24380807 )
2013
14
Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions. ( 22506890 )
2013
15
Acute but transient neurological deterioration revealing adult polyglucosan body disease. ( 23146612 )
2013
16
Adult polyglucosan body disease masquerading as &amp;quot;ALS with dementia of the Alzheimer type&amp;quot;: an exceptional phenotype in a rare pathology. ( 21572310 )
2012
17
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. ( 23034915 )
2012
18
The adult polyglucosan body disease mutation GBE1 c.1076A&amp;gt;C occurs at high frequency in persons of Ashkenazi Jewish background. ( 22943850 )
2012
19
Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions. ( 21538287 )
2011
20
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. ( 20655781 )
2010
21
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. ( 17994551 )
2008
22
Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease. ( 18825592 )
2008
23
Stable neuropsychological deficits in adult polyglucosan body disease. ( 16730990 )
2007
24
A case of adult polyglucosan body disease. ( 17722245 )
2007
25
Adult polyglucosan body disease: a case report of a manifesting heterozygote. ( 16007674 )
2005
26
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. ( 14755501 )
2004
27
Adult polyglucosan body disease: a postmortem correlation study. ( 12874416 )
2003
28
Adult polyglucosan body disease associated with lewy bodies and tremor. ( 12756142 )
2003
29
Adult polyglucosan body disease. ( 11260627 )
2001
30
Extensive white-matter changes in case of adult polyglucosan body disease. ( 11305757 )
2001
31
Probable adult polyglucosan body disease. ( 11126844 )
2000
32
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. ( 10762170 )
2000
33
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. ( 9851430 )
1998
34
Adult polyglucosan body disease associated with an extrapyramidal syndrome. ( 9810960 )
1998
35
Familial dementia due to adult polyglucosan body disease. ( 9266150 )
1997
36
Sevoflurane anaesthesia for a patient with adult polyglucosan body disease. ( 8955978 )
1996
37
Dementia of frontal lobe type due to adult polyglucosan body disease. ( 8530979 )
1995
38
Adult polyglucosan body disease. ( 7922101 )
1994
39
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. ( 8274116 )
1994
40
Glycogen branching enzyme deficiency in adult polyglucosan body disease. ( 8494336 )
1993
41
Adult Polyglucosan Body Disease ( 20301758 )
1993
42
Spinal cord MRI in adult polyglucosan body disease. ( 1522280 )
1992
43
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. ( 1763891 )
1991
44
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. ( 1656844 )
1991
45
Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. ( 6301360 )
1983
46
A type of adult polyglucosan body disease. ( 6814164 )
1982
47
A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. ( 6249438 )
1980

Variations for Polyglucosan Body Neuropathy, Adult Form

UniProtKB/Swiss-Prot genetic disease variations for Polyglucosan Body Neuropathy, Adult Form:

75
# Symbol AA change Variation ID SNP ID
1 GBE1 p.Arg515His VAR_022433 rs201958741
2 GBE1 p.Arg524Gln VAR_022434 rs80338673

ClinVar genetic disease variations for Polyglucosan Body Neuropathy, Adult Form:

6
(show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh37 Chromosome 3, 81691938: 81691938
2 GBE1 NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser) single nucleotide variant Pathogenic rs80338671 GRCh38 Chromosome 3, 81642787: 81642787
3 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh37 Chromosome 3, 81692140: 81692140
4 GBE1 NM_000158.3(GBE1): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs137852893 GRCh38 Chromosome 3, 81642989: 81642989
5 GBE1 NM_000158.3(GBE1): c.1544G> A (p.Arg515His) single nucleotide variant Pathogenic/Likely pathogenic rs201958741 GRCh37 Chromosome 3, 81627150: 81627150
6 GBE1 NM_000158.3(GBE1): c.1544G> A (p.Arg515His) single nucleotide variant Pathogenic/Likely pathogenic rs201958741 GRCh38 Chromosome 3, 81577999: 81577999
7 GBE1 NM_000158.3(GBE1): c.568A> G (p.Arg190Gly) single nucleotide variant Benign rs2229519 GRCh37 Chromosome 3, 81698130: 81698130
8 GBE1 NM_000158.3(GBE1): c.568A> G (p.Arg190Gly) single nucleotide variant Benign rs2229519 GRCh38 Chromosome 3, 81648979: 81648979
9 GBE1 NM_000158.3(GBE1): c.1716C> T (p.Asp572=) single nucleotide variant Benign/Likely benign rs2229520 GRCh37 Chromosome 3, 81586149: 81586149
10 GBE1 NM_000158.3(GBE1): c.1716C> T (p.Asp572=) single nucleotide variant Benign/Likely benign rs2229520 GRCh38 Chromosome 3, 81536998: 81536998
11 GBE1 NM_000158.3(GBE1): c.1519A> G (p.Thr507Ala) single nucleotide variant Benign/Likely benign rs2228389 GRCh37 Chromosome 3, 81627175: 81627175
12 GBE1 NM_000158.3(GBE1): c.1519A> G (p.Thr507Ala) single nucleotide variant Benign/Likely benign rs2228389 GRCh38 Chromosome 3, 81578024: 81578024
13 GBE1 NM_000158.3(GBE1): c.839G> A (p.Gly280Asp) single nucleotide variant Benign/Likely benign rs28763902 GRCh37 Chromosome 3, 81692085: 81692085
14 GBE1 NM_000158.3(GBE1): c.839G> A (p.Gly280Asp) single nucleotide variant Benign/Likely benign rs28763902 GRCh38 Chromosome 3, 81642934: 81642934
15 GBE1 NM_000158.3(GBE1): c.579G> A (p.Lys193=) single nucleotide variant Benign rs17019144 GRCh37 Chromosome 3, 81698119: 81698119
16 GBE1 NM_000158.3(GBE1): c.579G> A (p.Lys193=) single nucleotide variant Benign rs17019144 GRCh38 Chromosome 3, 81648968: 81648968
17 GBE1 NM_000158.3(GBE1): c.342C> T (p.Tyr114=) single nucleotide variant Benign rs13320194 GRCh37 Chromosome 3, 81720076: 81720076
18 GBE1 NM_000158.3(GBE1): c.342C> T (p.Tyr114=) single nucleotide variant Benign rs13320194 GRCh38 Chromosome 3, 81670925: 81670925
19 GBE1 NM_000158.3(GBE1): c.176T> C (p.Ile59Thr) single nucleotide variant Benign/Likely benign rs28763904 GRCh37 Chromosome 3, 81754732: 81754732
20 GBE1 NM_000158.3(GBE1): c.176T> C (p.Ile59Thr) single nucleotide variant Benign/Likely benign rs28763904 GRCh38 Chromosome 3, 81705581: 81705581
21 GBE1 NM_000158.3(GBE1): c.143+10G> T single nucleotide variant Benign/Likely benign rs9820490 GRCh37 Chromosome 3, 81810516: 81810516
22 GBE1 NM_000158.3(GBE1): c.143+10G> T single nucleotide variant Benign/Likely benign rs9820490 GRCh38 Chromosome 3, 81761365: 81761365
23 GBE1 NM_000158.3(GBE1): c.1581G> A (p.Thr527=) single nucleotide variant Uncertain significance rs140571802 GRCh38 Chromosome 3, 81577962: 81577962
24 GBE1 NM_000158.3(GBE1): c.1581G> A (p.Thr527=) single nucleotide variant Uncertain significance rs140571802 GRCh37 Chromosome 3, 81627113: 81627113
25 GBE1 NM_000158.3(GBE1): c.1406A> G (p.Tyr469Cys) single nucleotide variant Uncertain significance rs760661724 GRCh38 Chromosome 3, 81581205: 81581205
26 GBE1 NM_000158.3(GBE1): c.1406A> G (p.Tyr469Cys) single nucleotide variant Uncertain significance rs760661724 GRCh37 Chromosome 3, 81630356: 81630356
27 GBE1 NM_000158.3(GBE1): c.647A> G (p.Tyr216Cys) single nucleotide variant Uncertain significance rs886058901 GRCh38 Chromosome 3, 81648900: 81648900
28 GBE1 NM_000158.3(GBE1): c.647A> G (p.Tyr216Cys) single nucleotide variant Uncertain significance rs886058901 GRCh37 Chromosome 3, 81698051: 81698051
29 GBE1 NM_000158.3(GBE1): c.-102C> T single nucleotide variant Likely benign rs886058903 GRCh38 Chromosome 3, 81761618: 81761618
30 GBE1 NM_000158.3(GBE1): c.-102C> T single nucleotide variant Likely benign rs886058903 GRCh37 Chromosome 3, 81810769: 81810769
31 GBE1 NM_000158.3(GBE1): c.*558T> C single nucleotide variant Uncertain significance rs886058899 GRCh38 Chromosome 3, 81489849: 81489849
32 GBE1 NM_000158.3(GBE1): c.*558T> C single nucleotide variant Uncertain significance rs886058899 GRCh37 Chromosome 3, 81539000: 81539000
33 GBE1 NM_000158.3(GBE1): c.*466G> A single nucleotide variant Uncertain significance rs571158601 GRCh38 Chromosome 3, 81489941: 81489941
34 GBE1 NM_000158.3(GBE1): c.*466G> A single nucleotide variant Uncertain significance rs571158601 GRCh37 Chromosome 3, 81539092: 81539092
35 GBE1 NM_000158.3(GBE1): c.*176G> A single nucleotide variant Benign rs846 GRCh38 Chromosome 3, 81490231: 81490231
36 GBE1 NM_000158.3(GBE1): c.*176G> A single nucleotide variant Benign rs846 GRCh37 Chromosome 3, 81539382: 81539382
37 GBE1 NM_000158.3(GBE1): c.1874T> G (p.Phe625Cys) single nucleotide variant Uncertain significance rs769567764 GRCh38 Chromosome 3, 81535255: 81535255
38 GBE1 NM_000158.3(GBE1): c.1874T> G (p.Phe625Cys) single nucleotide variant Uncertain significance rs769567764 GRCh37 Chromosome 3, 81584406: 81584406
39 GBE1 NM_000158.3(GBE1): c.1392C> T (p.Leu464=) single nucleotide variant Uncertain significance rs563241317 GRCh38 Chromosome 3, 81581219: 81581219
40 GBE1 NM_000158.3(GBE1): c.1392C> T (p.Leu464=) single nucleotide variant Uncertain significance rs563241317 GRCh37 Chromosome 3, 81630370: 81630370
41 GBE1 NM_000158.3(GBE1): c.*395A> G single nucleotide variant Uncertain significance rs138608612 GRCh38 Chromosome 3, 81490012: 81490012
42 GBE1 NM_000158.3(GBE1): c.*395A> G single nucleotide variant Uncertain significance rs138608612 GRCh37 Chromosome 3, 81539163: 81539163
43 GBE1 NM_000158.3(GBE1): c.1803G> A (p.Gln601=) single nucleotide variant Uncertain significance rs368793136 GRCh38 Chromosome 3, 81536911: 81536911
44 GBE1 NM_000158.3(GBE1): c.1803G> A (p.Gln601=) single nucleotide variant Uncertain significance rs368793136 GRCh37 Chromosome 3, 81586062: 81586062
45 GBE1 NM_000158.3(GBE1): c.859G> C (p.Val287Leu) single nucleotide variant Uncertain significance rs116899644 GRCh38 Chromosome 3, 81642914: 81642914
46 GBE1 NM_000158.3(GBE1): c.859G> C (p.Val287Leu) single nucleotide variant Uncertain significance rs116899644 GRCh37 Chromosome 3, 81692065: 81692065
47 GBE1 NM_000158.3(GBE1): c.144-7T> C single nucleotide variant Uncertain significance rs886058902 GRCh38 Chromosome 3, 81705620: 81705620
48 GBE1 NM_000158.3(GBE1): c.144-7T> C single nucleotide variant Uncertain significance rs886058902 GRCh37 Chromosome 3, 81754771: 81754771
49 GBE1 NM_000158.3(GBE1): c.*598G> C single nucleotide variant Uncertain significance rs886058898 GRCh38 Chromosome 3, 81489809: 81489809
50 GBE1 NM_000158.3(GBE1): c.*598G> C single nucleotide variant Uncertain significance rs886058898 GRCh37 Chromosome 3, 81538960: 81538960

Expression for Polyglucosan Body Neuropathy, Adult Form

Search GEO for disease gene expression data for Polyglucosan Body Neuropathy, Adult Form.

Pathways for Polyglucosan Body Neuropathy, Adult Form

GO Terms for Polyglucosan Body Neuropathy, Adult Form

Sources for Polyglucosan Body Neuropathy, Adult Form

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