title: Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease.
abstract: Peripheral ataxia is reported in a juvenile case of Alpers-Huttenlocher disease (AHD). Neurophysiological and neuropathological investigations revealed a central-peripheral axonopathy, affecting the deep sensation carried by the peripheral nerve fibres and the posterior tracts of the cord, due to neuronal loss of the sensory ganglia. Involvement of the sensory pathways is regarded as a major feature of juvenile AHD.
authors.affiliation: Department of Neurological and Visual Sciences, Section of Clinical Neurology, Policlinico GB Rossi, P.le LA Scuro 1, 37134 Verona, Italy. alessandro.simonati@univr.it
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Giuliano
authors.initials: G
authors.lastname: Tomelleri
authors.forename: Chiara
authors.initials: C
authors.lastname: Savio
authors.forename: Paola
authors.initials: P
authors.lastname: Tonin
authors.forename: Alberto
authors.initials: A
authors.lastname: Polo
authors.forename: Nicolò
authors.initials: N
authors.lastname: Rizzuto
mesh_terms: D000328:Adult; D001259:Ataxia / Q000209:etiology; D001931:Brain Mapping; D016923:Cell Death; D003711:Demyelinating Diseases / Q000473:pathology / Q000503:physiopathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications* / Q000473:pathology; D017036:Epilepsia Partialis Continua / Q000150:complications; D005071:Evoked Potentials; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009778:Occipital Lobe / Q000473:pathology / Q000503:physiopathology; D012678:Sensation Disorders / Q000209:etiology* / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology