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Juvenile neuroaxonal dystrophy: Clinical, electrophysiological, and neuropathological features
Author(s) -
Dorfman Leslie J.,
Pedley Timothy A.,
Tharp Barry R.,
Scheithauer Bernd W.
Publication year - 1978
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410030511
Subject(s) - myoclonus , progressive myoclonus epilepsy , ataxia , pathological , epilepsy , medicine , differential diagnosis , lafora disease , degenerative disease , dystrophy , pathology , neuroscience , cerebellar ataxia , juvenile , basal ganglia , psychology , disease , central nervous system , biology , biochemistry , phosphorylation , genetics , phosphatase
We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar ataxia and intellectual deterioration. Electroencephalographic and cerebral evoked potential studies showed findings associated with myoclonus epilepsy. Neuropathological examination of 1 of the brothers, who died at age 23 years, revealed widespread changes of neuroaxonal dystrophy without pigment deposition in the basal ganglia. We propose the term juvenile neuroaxonal dystrophy (JNAD) to distinguish this condition on clinical grounds from infantile neuroaxonal dystrophy on the one hand, and on clinical and pathological grounds from Hallervorden‐Spatz disease on the other hand. JNAD, while exceedingly rare, must be considered in the differential diagnosis of the progressive myoclonus epilepsies.