Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family
Articolo
Data di Pubblicazione:
2015
Citazione:
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. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 25:5(2015 May), pp. 423-428.
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>A; p.Arg355His) and one previously described (c.1604A>G; p.Tyr535Cys) in all siblings. We highlight that peripheral neuropathy, deemed as disease hallmark, may be missing and that transient symptoms are confirmed as early disease manifestations. The pattern of damage at neuro-imaging described recurs irrespective of clinical presentation, constituting a unifying diagnostic clue.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Adult Polyglucosan Body Disease; Leukodystrophy; 1,4-Alpha-glucan branching enzyme; GBE1
Elenco autori:
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
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