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Neuromuscul Disord ; 25(5): 423-8, 2015 May.
Article in English | MEDLINE | ID: mdl-25728520

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.


Subject(s)
Glycogen Storage Disease/diagnosis , Nervous System Diseases/diagnosis , Family , Female , Glycogen Storage Disease/pathology , Glycogen Storage Disease/physiopathology , Humans , Italy , Male , Middle Aged , Muscle, Skeletal/innervation , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Myelin Sheath/pathology , Nervous System Diseases/pathology , Nervous System Diseases/physiopathology , Neural Conduction , Pedigree , Sural Nerve/metabolism , Sural Nerve/pathology , White People
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