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

I. Colombo; S. Pagliarani; S. Testolin; E. Salsano; L. M. Napoli; A. Bordoni; S. Salani; E. D'Adda; L. Morandi; L. Farina; F. Magri; M. Riva; A. Prelle; M. Sciacco; G. P. Comi; M. Moggio

doi:10.1016/j.nmd.2015.01.015

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

I. Colombo, S. Pagliarani, S. Testolin, E. Salsano, L. M. Napoli, A. Bordoni, S. Salani, E. D'Adda, L. Morandi, L. Farina, F. Magri, M. Riva, A. Prelle, M. Sciacco, G. P. Comi, M. Moggio

Research output: Contribution to journal › Article › peer-review

Abstract

Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological investigation (1/3 cases) and transient symptoms (1/3). A leucoencephalopathy with infratentorial lesions without enhancement and medullary/spine atrophy was demonstrated on brain/spine MRI (3/3). Muscle biopsy was normal in 2/3; both muscle and nerve biopsy showed polyglucosan bodies in the sibling with polyneuropathy. This indicated a need for GBE1 sequencing, which revealed a novel missense mutation (c.1064G

Original language	English
Pages (from-to)	423-428
Number of pages	6
Journal	Neuromuscular Disorders
Volume	25
Issue number	5
DOIs	https://doi.org/10.1016/j.nmd.2015.01.015
Publication status	Published - Sep 15 2014

Keywords

1,4-Alpha-glucan branching enzyme
Adult Polyglucosan Body Disease
GBE1
Leukodystrophy

ASJC Scopus subject areas

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

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Colombo, I., Pagliarani, S., Testolin, S., Salsano, E., Napoli, L. M., Bordoni, A., Salani, S., D'Adda, E., Morandi, L., Farina, L., Magri, F., Riva, M., Prelle, A., Sciacco, M., Comi, G. P., & Moggio, M. (2014). Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family. Neuromuscular Disorders, 25(5), 423-428. https://doi.org/10.1016/j.nmd.2015.01.015

Adult Polyglucosan Body Disease : Clinical and histological heterogeneity of a large Italian family. / Colombo, I.; Pagliarani, S.; Testolin, S.; Salsano, E.; Napoli, L. M.; Bordoni, A.; Salani, S.; D'Adda, E.; Morandi, L.; Farina, L.; Magri, F.; Riva, M.; Prelle, A.; Sciacco, M.; Comi, G. P.; Moggio, M.

In: Neuromuscular Disorders, Vol. 25, No. 5, 15.09.2014, p. 423-428.

Research output: Contribution to journal › Article › peer-review

Colombo, I, Pagliarani, S, Testolin, S, Salsano, E, Napoli, LM, Bordoni, A, Salani, S, D'Adda, E, Morandi, L, Farina, L , Magri, F, Riva, M, Prelle, A, Sciacco, M , Comi, GP & Moggio, M 2014, 'Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family', Neuromuscular Disorders, vol. 25, no. 5, pp. 423-428. https://doi.org/10.1016/j.nmd.2015.01.015

Colombo, I. ; Pagliarani, S. ; Testolin, S. ; Salsano, E. ; Napoli, L. M. ; Bordoni, A. ; Salani, S. ; D'Adda, E. ; Morandi, L. ; Farina, L. ; Magri, F. ; Riva, M. ; Prelle, A. ; Sciacco, M. ; Comi, G. P. ; Moggio, M. / Adult Polyglucosan Body Disease : Clinical and histological heterogeneity of a large Italian family. In: Neuromuscular Disorders. 2014 ; Vol. 25, No. 5. pp. 423-428.

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abstract = "Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological investigation (1/3 cases) and transient symptoms (1/3). A leucoencephalopathy with infratentorial lesions without enhancement and medullary/spine atrophy was demonstrated on brain/spine MRI (3/3). Muscle biopsy was normal in 2/3; both muscle and nerve biopsy showed polyglucosan bodies in the sibling with polyneuropathy. This indicated a need for GBE1 sequencing, which revealed a novel missense mutation (c.1064G",

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AU - D'Adda, E.

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AU - Farina, L.

AU - Magri, F.

AU - Riva, M.

AU - Prelle, A.

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AU - Comi, G. P.

AU - Moggio, M.

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AB - Adult Polyglucosan Body Disease (APBD) is a rare inherited leukodystrophy associated with axonal polyneuropathy, mainly reported in persons of Ashkenazi-Jewish descent. We describe three Italian siblings at disease onset, presenting in their fifties with a combination of pyramidal and ataxic signs, mild demyelinating neuropathy on neurophysiological investigation (1/3 cases) and transient symptoms (1/3). A leucoencephalopathy with infratentorial lesions without enhancement and medullary/spine atrophy was demonstrated on brain/spine MRI (3/3). Muscle biopsy was normal in 2/3; both muscle and nerve biopsy showed polyglucosan bodies in the sibling with polyneuropathy. This indicated a need for GBE1 sequencing, which revealed a novel missense mutation (c.1064G

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

Abstract

Keywords

ASJC Scopus subject areas

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