Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease.
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.
Simonati
Alessandro
A
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
Filosto
Massimiliano
M
Tomelleri
Giuliano
G
Savio
Chiara
C
Tonin
Paola
P
Polo
Alberto
A
Rizzuto
Nicolò
N
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