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  • Title: [Giant axonal neuropathy. Presentation of 2 familial cases].
    Author: Maraví Petri E, García-Bragado F, Martín Ruiz E, Guarch R, Ruiz de Azúa Y, Yoldi ME.
    Journal: Neurologia; 1989; 4(1):24-30. PubMed ID: 2698683.
    Abstract:
    A review of 20 cases of giant axonal neuropathy (4 of them familial) described in the literature, and two new cases in brothers whose parents had no consanguinity is reported. A recessive autosomic pattern of inheritance is suggested. Curly hair, a typical phenotypic feature, was not initially present in our cases. This feature developed, however, later in the older brother. Clinical manifestations include an early predominantly motor polyneuropathy, subsequently involving the central nervous system. Clinical course is progressive and gait becomes impaired by the age of 10 to 13 years. Electrophysiologic studies show an axonal polyneuropathy with decreased evoked potential amplitude in motor and sensitive conduction speed. Diagnosis is achieved through a sural nerve biopsy showing an axonal thickening. Electron microscopy shows this to be related to a neurofibrillar accumulation.
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