Auditory evoked brainstem response and high‐performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy

Brown, Frank R.; Shimizu, Hiroshi; McDonald, James M.; Moser, Ann B.; Marquis, Paul; Chen, Winston W.; Moser, Hugo W.

doi:10.1212/wnl.31.8.980

Cited by 38 publications

(5 citation statements)

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“…Functionally, the histologic findings in the acoustic ganglion are reflected by the complete loss of brainstem auditory-evoked responses in the deficient mice. Although in humans no histologic analysis of the inner ear has been reported, a delay in brainstem auditory-evoked potentials has been described as one of the earliest symptoms in humans (18).…”

Section: Discussionmentioning

confidence: 99%

Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy

Hess

Säftig

Hartmann

et al. 1996

Proc. Natl. Acad. Sci. U.S.A.

239

206

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Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the deficiency of arylsulfatase A. The disease is characterized by progressive demyelination, causing various neurologic symptoms. Since no naturally occurring animal model of the disease is available, we have generated arylsulfatase A-deficient mice. Deficient animals store the sphingolipid cerebroside-3-sulfate in various neuronal and nonneuronal tissues. The storage pattern is comparable to that of affected humans, but gross defects of white matter were not observed up to the age of 2 years. A reduction of axonal cross-sectional area and an astrogliosis were observed in 1-year-old mice; activation of microglia started at 1 year and was generalized at 2 years. Purkinje cell dendrites show an altered morphology. In the acoustic ganglion numbers of neurons and myelinated fibers are severely decreased, which is accompanied by a loss of brainstem auditory-evoked potentials. Neurologic examination reveals significant impairment of neuromotor coordination.

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Section: Discussionmentioning

confidence: 99%

Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy

Hess

Säftig

Hartmann

et al. 1996

Proc. Natl. Acad. Sci. U.S.A.

239

206

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“…Normally there are about 12'000 sodium channels/J..lm 2 in the nodal membrane and 25/J..lm 2 in the internodal membrane. In un-Lütschg myelinated axons there are IIO/J..lm 2 (Ritchie and BOKart 1977). It is assumed by several authors that redistribution of sodium channels takes place after demyelination (Rasminsky 1978, Ritchie andBogart 1977).…”

Section: Pathoph) Siological Aspects Of M Yel In Lesionsmentioning

confidence: 99%

Pathophysiological Aspects of Central and Peripheral Myelin Lesions

Lütschg¹

1984

Neuropediatrics

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The results of nerve conduction velocities, evoked potentials and EEGs in adrenoleukodystrophy, metachromatic leukodystrophy and Pelizaeus Merzbacher's disease are discussed. As shown on the example of four own cases with metachromatic leukodystrophy, the slowing of nerve conduction velocities and the latency prolongation of evoked potentials components or loss of evoked potential components is dependent on the type of MLD (infantile and juvenile) and of the duration of the disease. The pathophysiology of the slowed peripheral and central impulse conduction is discussed.

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“…In none of the patients that we studied was a prolonged wave I seen in the ABRs, which would indicate involvement of the VHIth nerve, even though this was described as typical of MLD by Markand et al 6 The ABRs in our two patients with juvenile MLD showed delayed central conduction even at high intensity levels, as found by Carlin et al 14 but not by other investigators. 4 In the one MLD family we studied, the normal sibling had both normal ABRs and normal arylsulfatase A activity, while the parents had decreased arylsulfatase A (in the carrier range) yet normal ABRs. This suggests that the ABRs are not reliable in detecting carriers of MLD.…”

Section: Discussionmentioning

confidence: 96%

Multimodal Evoked Potential Studies in Leukodystrophies of Children

Meirleir

Taylor²,

Logan³

1988

Can. j. neurol. sci.

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ABSTRACT:Evoked potentials were studied in 22 children with leukodystrophy [10 metachromatic leukodystrophy (MLD), 4 Pelizaeus-Merzbacher (PM), 3 Krabbes, 2 adrenoleukodystrophy (ALD), and one each of Alexander's, Canavan's and multiple sulphatase deficiency (MSD) diseases]. The ABRs were abnormal in all patients (except for the younger ALD), but varied with the type of leukodystrophy. The PM and Krabbes patients had abnormal ABRs with a loss of the rostral waves, accompanied in Krabbes with delayed I-III interpeak latencies; in MLD, ALD and MSD prolonged interpeak latencies were found. Three patients who had no clinical signs, but were positively diagnosed as MLD on the basis of absent arylsulphatase A, also had abnormal ABRs. The SEPs were abnormal in all patients. Cortical SEPs were absent in 16 and abnormal in 5 who were in the earlier stages of their disease. Cervical SEPs were within normal limits except for the Krabbes and MLD patients studied, who showed peripheral slowing. The VEPs were normal in only 6 and, unlike the ABRs and SEPs, did not seem to covary with clinical severity across the various leukodystrophies but did correlate with disease progression. Thus, multimodal EPs are useful in the diagnostic differentiation of the leukodystrophies.

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Auditory evoked brainstem response and high‐performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy

Cited by 38 publications

References 0 publications

Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy

Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy

Pathophysiological Aspects of Central and Peripheral Myelin Lesions

Multimodal Evoked Potential Studies in Leukodystrophies of Children

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