Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease

A. Sagnelli, M. Savoiardo, C. Marchesi, L. Morandi, M. Mora, M. Morbin, L. Farina, A. Mazzeo, A. Toscano, S. Pagliarani, S. Lucchiari, G. P. Comi, E. Salsano, D. Pareyson

Research output: Contribution to journalArticle

Abstract

Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment. Fabry's disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction. Here, we report the case of a 44-year-old Sicilian male with stroke-like episodes, hypohidrosis and mild proteinuria, which led to the diagnosis of Fabry's disease after a hemizygous mutation (p.Ala143Thr) in α-galactosidase A gene was detected. Subsequently, he developed progressive walking difficulties and dementia, which were considered atypical for Fabry's disease. Therefore, we performed additional investigations that eventually led to the diagnosis of adult polyglucosan body disease caused by two novel missense mutations (p.Asp413His and p.Gly534Val) in the glycogen branching enzyme gene. Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned. This case underlines the importance of performing further investigations when facing with atypical features even in the presence of a genetic diagnosis of a rare disease.

Original languageEnglish
Pages (from-to)272-276
Number of pages5
JournalNeuromuscular Disorders
Volume24
Issue number3
DOIs
Publication statusPublished - Mar 2014

Fingerprint

Fabry Disease
1,4-alpha-Glucan Branching Enzyme
Galactosidases
Mutation
Genes
Stroke
Hypohidrosis
Mobility Limitation
Paraplegia
Peripheral Nervous System Diseases
Missense Mutation
Rare Diseases
Neurologic Manifestations
Vibration
Proteinuria
Dementia
Adult Form Polyglucosan Body Disease

Keywords

  • α-Galactosidase A
  • 1,4-Alpha-glucan branching enzyme
  • Adult polyglucosan body disease
  • Fabry's disease
  • Lysosomal storage disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

Cite this

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. / Sagnelli, A.; Savoiardo, M.; Marchesi, C.; Morandi, L.; Mora, M.; Morbin, M.; Farina, L.; Mazzeo, A.; Toscano, A.; Pagliarani, S.; Lucchiari, S.; Comi, G. P.; Salsano, E.; Pareyson, D.

In: Neuromuscular Disorders, Vol. 24, No. 3, 03.2014, p. 272-276.

Research output: Contribution to journalArticle

Sagnelli, A, Savoiardo, M, Marchesi, C, Morandi, L, Mora, M, Morbin, M, Farina, L, Mazzeo, A, Toscano, A, Pagliarani, S, Lucchiari, S, Comi, GP, Salsano, E & Pareyson, D 2014, 'Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease', Neuromuscular Disorders, vol. 24, no. 3, pp. 272-276. https://doi.org/10.1016/j.nmd.2013.11.006
Sagnelli, A. ; Savoiardo, M. ; Marchesi, C. ; Morandi, L. ; Mora, M. ; Morbin, M. ; Farina, L. ; Mazzeo, A. ; Toscano, A. ; Pagliarani, S. ; Lucchiari, S. ; Comi, G. P. ; Salsano, E. ; Pareyson, D. / Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. In: Neuromuscular Disorders. 2014 ; Vol. 24, No. 3. pp. 272-276.
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