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Letter to the editor
Author(s) -
SzwabowskaOrzeszko E.,
Jóźwiak S.,
Michalowicz R.
Publication year - 1993
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1993.tb04129.x
Subject(s) - brainstem , degeneration (medical) , spinal cord , atrophy , spinal muscular atrophy , cerebrum , pathological , cerebellum , denervation , in utero , pathology , medicine , neuroscience , disease , anatomy , central nervous system , biology , fetus , pregnancy , genetics
We read with interest the article by Yohannan et al. (1). This common autosomal recessive disease is characterized by extensive, widespread muscular atrophy due to progressive denervation which begins in utero. The universal finding at necropsy is degeneration and loss of motor neurons in spinal cord and brainstem (2, 3). Pathological changes in the cerebrum and cerebellum are also found in many of these cases at necropsy, while only very few reports describe them in vivo.