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Review
. 2021 May;44(3):534-543.
doi: 10.1002/jimd.12325. Epub 2020 Nov 13.

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes

Paulo Victor Sgobbi Souza  1 , Bruno Mattos Lombardi Badia  1 , Igor Braga Farias  1 , Wladimir Bocca Vieira de Rezende Pinto  1 , Acary Souza Bulle Oliveira  1 , Hasan Orhan Akman  2 , Salvatore DiMauro  2
Affiliations
Review

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes

Paulo Victor Sgobbi Souza et al. J Inherit Metab Dis. 2021 May.

Abstract

Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen-branching enzyme and secondary storage of glycogen in the form of polyglucosan bodies, involving the skeletal muscle, diaphragm, peripheral nerve (including autonomic fibers), brain white matter, spinal cord, nerve roots, cerebellum, brainstem and to a lesser extent heart, lung, kidney, and liver cells. The diversity of new clinical presentations regarding neuromuscular involvement is astonishing and transformed APBD in a key differential diagnosis of completely different clinical conditions, including axonal and demyelinating sensorimotor polyneuropathy, progressive spastic paraparesis, motor neuronopathy presentations, autonomic disturbances, leukodystrophies or even pure myopathic involvement with limb-girdle pattern of weakness. This review article aims to summarize the main clinical, biochemical, genetic, and diagnostic aspects regarding APBD with special focus on neuromuscular presentations.

Keywords: GBE1 gene; glycogen; glycogen storage disease; motor neuron disease; neurogenetics; polyglucosan body disease.

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References

REFERENCES

    1. Robitaille Y, Carpenter S, Karpati G, DiMauro S. 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. Brain. 1980;103(2):315-336.
    1. Mochel F, Schiffmann R, Steenweg ME, et al. Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings. Ann Neurol. 2012;72(3):433-441.
    1. Hedberg-Oldfors C, Oldfors A. Polyglucosan storage myopathies. Mol Aspects Med. 2015;46:85-100.
    1. Porto AG, Brun F, Severini GM, et al. Clinical spectrum of PRKAG2 syndrome. Circ Arrythm Electrophysiol. 2016;9(1):e003121. https://doi.org/10.1161/CIRCEP.115.003121.
    1. Souza PVS, Bortholin T, Dias RB, et al. New genetic causes for complex hereditary spastic paraplegia. J Neurol Sci. 2017;379:283-292.

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