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Familial spasmodic dysphonia with low arylsulphatase A (ASA) level.
Author(s) -
Philpot Michael
Publication year - 1996
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.1600-0404.1996.tb00029.x
Subject(s) - dystonia , abnormality , spasmodic dysphonia , focal dystonia , white matter , medicine , pediatrics , psychology , neuroscience , psychiatry , magnetic resonance imaging , botulinum toxin , radiology
I read the recent paper by Martinelli et al (1) with interest. The association between low ASA levels and a rare form of adult onset focal dystonia described in the paper is not entirely surprising. Low ASA levels (usually defined as a 50–60% reduction from the control mean) have now been found in between 7 and 34% of patients in surveys of a range of neurological and psychiatric disorders (2–7). In most instances there is no evidence of sulphatide deposition in the nervous system, such as would be expected in individuals with severe ASA deficiency. This is also the case with the present study where there is also no imaging evidence of white matter or subcortical abnormality.