Clin Genet. 1981 Apr;19(4):222-7.

An unusual form of metachromatic leukodystrophy in three siblings.

Abstract

An unusual form of Metachromatic Leukodystrophy (MLD) has been described in three siblings who are the sole children of related parents of Iranian origin. Clinical progression in the three siblings was insidious and protracted, the hallmark of the condition being a dystonia mainly induced by intention and manifested by dysarthria and torsion spasm of the neck, spine and extremities. The dysarthria sometimes culminated in apparent choreoathetosis. Laboratory studies included positive sural nerve biopsies, prolonged nerve conduction times and a marked deficiency of arylsulfatase A in the urine, leukocytes and fibroblasts. The parents presented no clinical manifestations, but the arylsulfatase A activity in both was reduced by 50%.

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Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. [Am J Hum Genet. 1981]
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Stevens RL, Fluharty AL, Kihara H, Kaback MM, Shapiro LJ, Marsh B, Sandhoff K, Fischer G. Am J Hum Genet. 1981 Nov; 33(6):900-6.
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy. [Pediatr Res. 1983]
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Hreidarsson SJ, Thomas GH, Kihara H, Fluharty AL, Kolodny EH, Moser HW, Reynolds LW. Pediatr Res. 1983 Sep; 17(9):701-4.
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Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy.
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An unusual form of metachromatic leukodystrophy in three siblings.

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