Adult Onset Metachromatic Leukodystrophy Without Electroclinical Peripheral Nervous System Involvement

Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.

BACKGROUND Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA). Clinically, the disease is heterogeneous with respect to the age of onset, affection of peripheral and central nervous systems, and progression. OBJECTIVES To analyze mutations in the ARSA gene of a patient with adult-onset MLD with no signs of peripheral polyneurop...

Adult-type metachromatic leukodystrophy mimicking multiple sclerosis.

recessive lysosomal storage disease caused by a deficiency of arylsulphatase A (ASA). It is characterized by accumulation of sulphatide in the white matter in the central nervous system and peripheral nerves1. The disease is divided in four subtypes, according to onset, severity and progression of the disease: late infantile (before age 4), early juvenile (age 4 to 6), late juvenile (age 6 to 1...

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.

BACKGROUND P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. OBJECTIVE To search for genotype-phenotype correlations in late-onset MLD. METHODS The authors reviewed the clinical course of 22 patients homozygous for mutation P426L vs 20 patients he...

A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.

! 45 and 47, respectively. His parents were not consanguineous and there is no previous history of similar neurological diseases in the family. Examination of the optic fundi showed no abnormal findings. He had no numbness, paresthesia, muscle weakness, muscle atrophy, abnormal involuntary movements or ataxia. Superficial sensation was normal, but vibratory sense was very slightly impaired in t...

Peripheral Nerve Conduction in Metachromatic Leukodystrophy (sulphatide Lipidosis).