Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

Ziemssen, Focke; Sindern, Eckhart; Jm, Schröder; Shin, Yu Seob; Zange, Jochen; Mw, Kilimann; Jp, Malin; Vorgerd, Matthias

doi:10.1002/1531-8249(200004)47:4<536::aid-ana22>3.0.co;2-k

Cited by 68 publications

(44 citation statements)

References 12 publications

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“…Predictably, none of the mutations detected in patients with the severe infantile neuromuscular presentation have been seen in APBD or in the nonprogressive hepatic form, whereas the 2 milder phenotypes share some mutations, including p.Y329S and p.L224P. 5,8,18 The p.R515H mutation found in both of our patients had been previously reported in 2 cases: one was a compound heterozygous non-Ashkenazi patient with onset of APBD at age 46 years described by Ziemssen et al, 13 and the other was the patient with acute transient presentation at age 35 years described by Billot et al 10 The c.1961–1962delCA mutation in our patient 2 is novel: whether this mutation also contributes to a milder phenotype remains to be established.…”

Section: Discussionsupporting

confidence: 61%

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Branching Enzyme Deficiency

et al. 2014

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Section: Discussionsupporting

confidence: 61%

“…10,13 The GBE1 gene in patient 2 harbored 2 different mutations, one missense (c.1544G>A; p.R515H) in exon 12 and the other frameshift (c.1961–1962delCA) in exon 15, resulting in a premature stop codon that truncated the protein. Sequencing of the GBE1 gene in both patients documented that the mutations were located in different alleles.…”

Section: Resultsmentioning

confidence: 99%

Branching Enzyme Deficiency

et al. 2014

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“…In the severe perinatal form, patients may present in utero with fetal hydrops or at birth with severe hypotonia, muscle atrophy, and neuronal involvement with early death; liver cirrhosis and hepatic failure have not been described. A variant of the neuromuscular form of GBE deficiency may present as adult polyglucosan body disease (PBD), which seems to represent an entity in itself, characterized by late onset and slowly progressive severe neurological symptoms with upper and lower motor neuron involvement (Ziemssen et al 2000). PBD can present with or without GBE deficiency, suggesting that different biochemical defects could result in an identical phenotype.…”

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confidence: 99%

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings

Giuffre

Parini

Rizzuti

et al. 2004

J of Inher Metab Disea

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Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease. Prenatal history included polyhydramnios, reduced fetal movements and fetal hydrops, and Caesarean section was performed at 36 weeks of gestational age because of fetal distress. At birth, both babies showed severe hypotonia, hyporeflexia and no spontaneous breathing activity. They never showed active movements, sucking and swallowing and were respirator-dependent until death. A muscle biopsy revealed, in both patients, the presence of PAS-positive and partially diastase-resistant cytoplasmic inclusions containing granular and filamentous amylopectin-like material. This suggested that the stored material consisted of abnormal glycogen. At autopsy, ultrastructural examination of cardiac and skeletal muscle, liver, kidney and brain showed PAS-positive diastase-resistant eosinophilic cytoplasmic inclusions. Determination of branching enzyme activity, in cultured fibroblasts from the second patient, showed markedly reduced enzyme activity, confirming diagnosis of glycogenosis type IV. Our patients showed the full spectrum of both prenatal signs (hydrops, polyhydramnios) and postnatal signs (hypotonia, hyporeflexia, absence of active movements, cardiomegaly), which have been reported previously. They suffered from a very severe form of glycogenosis type IV with clinical and histological involvement of many tissues and organs. Diagnosis was accomplished on the second baby and required several biochemical and histological studies, in order to rule out both neuromuscular disorders and the most common storage diseases with neonatal onset. In our experience, the correct interpretation of the histological findings was essential in the search for the diagnosis.

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“…Adult polyglucosan body disease (APBD) is a rare autosomal recessive genetic disorder caused by a glycogen branching enzyme deficiency, leading to CA accumulation in the central and peripheral nervous system. [23111415161720232627] Mochel et al . [3] demonstrated that bilateral hyperintense lesions on T2 and FLAIR sequences in the medulla, pons, internal and external capsule, and periventricular regions are characteristic in patients with APBD.…”

Section: Discussionmentioning

confidence: 99%

Corpora amylacea mimicking low-grade glioma and manifesting as a seizure: Case report

Lee¹,

Kim²,

Lagman³

et al. 2017

Surg Neurol Int

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Background:Corpora amylacea (CA) are accumulations of polyglucosan bodies typically found in astrocytic foot processes, and rarely, can mimic neoplasm. CA accumulation has also been associated with seizure disorders. We report the first case of a histologically confirmed intracranial, intraparenchymal CA lesion mimicking a low-grade glioma and manifesting as a seizure.Case Description:A 43-year-old man presented after a general tonic–clonic (GTC) seizure. Brain magnetic resonance imaging (MRI) revealed a small lesion in the right mesial temporal lobe with radiologic features of a low-grade glioma. The patient underwent a right pteronial craniotomy for resection of the lesion. Histology demonstrated abundant polyglucosan bodies without neoplastic features. The patient tolerated the procedure well, was free from seizures without antiepileptic drugs at 2-week follow-up, and is undergoing serial surveillance.Conclusion:The clinical manifestation of CA as a seizure in the context of an identified brain mass is extraordinarily rare. Nevertheless, CA should be considered in the differential diagnosis for patients with seizures and a radiologically identifiable low-grade lesion. Symptomatic CA lesions Mimicking a low-grade glioma should be surgically pursued with a goal of safe, maximal resection to confirm the diagnosis and to provide the patient with prognosis, which can significantly impact patient quality of life.

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Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

Cited by 68 publications

References 12 publications

Branching Enzyme Deficiency

Branching Enzyme Deficiency

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings

Corpora amylacea mimicking low-grade glioma and manifesting as a seizure: Case report

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