Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Colombo, Ilaria; Pagliarani, Serena; Testolin, Silvia; Salsano, Ettore; Napoli, Laura; Bordoni, Andreina; Salani, Sabrina; D'Adda, Elisabetta; Morandi, Lucia; Farina, Laura; Magri, Francesca; Riva, M.; Prelle, A.; Sciacco, Monica; Comi, Giacomo P.; Moggio, Maurizio

doi:10.1016/j.nmd.2015.01.015

Cited by 15 publications

(17 citation statements)

References 16 publications

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“…Bladder dysfunction is often the initial symptom. Most patients reported are of Ashkenazi Jewish background (Mochel et al, 2012), but there are exceptions (Bruno et al, 1993;Colombo et al, 2015). Age at onset is usually 40-60 years and the progressive course eventually leads to wheelchair dependency.…”

Section: Clinical and Morphological Characteristicsmentioning

confidence: 99%

“…Brain MRI shows features of leukoencephalopathy and atrophy of the medulla oblongata and spinal cord (Mochel et al, 2012). Polyglucosan bodies are widely distributed in the central and peripheral nervous system (Colombo et al, 2015;Robitaille et al, 1980). Most patients with Ashkenazi Jewish background are homozygous for the common c.986A > C (p.Y329S) mutation (Mochel et al, 2012).…”

Section: Clinical and Morphological Characteristicsmentioning

confidence: 99%

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Polyglucosan storage myopathies

Hedberg‐Oldfors

Oldfors

2015

Molecular Aspects of Medicine

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Section: Clinical and Morphological Characteristicsmentioning

confidence: 99%

Section: Clinical and Morphological Characteristicsmentioning

confidence: 99%

Polyglucosan storage myopathies

Hedberg‐Oldfors

Oldfors

2015

Molecular Aspects of Medicine

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“…Distribution of muscle weakness was mainly symmetrical, proximal, proximo‐distal, or distal involving hand and finger muscles. A mild degree of asymmetric weakness was reported in the two sisters described by Colombo et al and in a few patients with other GYG1 mutations …”

mentioning

confidence: 71%

“…Among the 11 homozygous patients with the c.143 + 3G>C mutation, 2 presented with onset in their teens and 9 had adult or late‐onset (>30 years). Only one patient developed facial weakness . Exercise intolerance was reported in two cases and scapular winging in two other patients .…”

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confidence: 91%

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Severe asymmetric muscle weakness revealing glycogenin‐1 polyglucosan body myopathy

et al. 2017

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International audienceWe recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the primingenzyme of glycogen synthesis. To date 22 patients have been reported. They have juvenile to late-onset clinical symptoms with a variable distribution of muscle weakness. Muscle biopsies show the accumulation of polyglucosan bodies, consisting of hyper-intense periodic acid-Schiff (PAS)-positive material with a variable resistance to alpha-amylase treatment. Although cardiacinvolvement has been reported in 4 patients with glycogenin-1 gene (GYG1) mutations, these patients did not show any clear evidence of skeletal muscle disease.Here, we describe a 63-year-old woman born to consanguineous French parents, who developed right shoulder pain, difficulty climbing stairs and left foot weakness causing stumbling episodes at 46 years of age. Over time, the patient reported increasing difficulty elevating the right arm. At 61 years of age she also developed slight difficulty with left shoulder movement, and more recently she reported rare forearm fasciculations and nocturnal cramps in her thighs, calves, and toes

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Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

et al. 2018

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Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development of gross motor skills. Patient 1 was diagnosed with congenital myopathy based on a muscle biopsy at the age of 6 years. The genetic cause of his disorder (two compound heterozygous mis-sense mutations in GBE1 (c.[760A>G] p.[Thr254Ala] and c.[1063C>T] p.[Arg355Cys])), however, was only identified at the age of 17, after panel sequencing of 314 genes associated with neuromuscular disorders. Thanks to the availability of next-generation sequencing, patient 2 was diagnosed before the age of 2 with two compound heterozygous mutations in GBE1 (c.[691+2T>C] (splice donor variant) and the same c.[760A>G] p.[Thr254Ala] mutation as patient 1). GSD IV is an autosomal recessive metabolic disorder with a broad and expanding clinical spectrum, which hampers targeted diagnostics. The current cases illustrate the value of novel genetic testing for rare genetic disorders with neuromuscular phenotypes, especially in case of clinical heterogeneity. We argue that genetic testing by gene panels or whole exome sequencing should be considered early in the diagnostic procedure of unresolved neuromuscular disorders.

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Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Cited by 15 publications

References 16 publications

Polyglucosan storage myopathies

Polyglucosan storage myopathies

Severe asymmetric muscle weakness revealing glycogenin‐1 polyglucosan body myopathy

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

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