Adult metachromatic leukodystrophy

Wulff, Christian Hertel; Trojaborg, W.

doi:10.1212/wnl.35.12.1776

Cited by 32 publications

(9 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…8,22 There are rare reports of multifocal conduction slowing in MLD, but they relate mostly to the adult form. 7,12,35 In 1 case of early juvenile MLD, the initial NCS at 4 years of age revealed nonuniform slowing in distal and proximal segments of the ulnar and peroneal nerves, with differences of 28 and 19 m/s, respectively. 25 The velocities were uniformly slow in a follow-up study 20 months later.…”

Section: Discussionmentioning

confidence: 97%

Multifocal slowing of nerve conduction in metachromatic leukodystrophy

et al. 2004

View full text Add to dashboard Cite

Polyneuropathy is invariably associated with the late-infantile form of metachromatic leukodystrophy (MLD), and occurs frequently in the early juvenile, juvenile, and adult variants. Uniform slowing of nerve conduction velocity is the neurophysiologic hallmark of metachromatic leukodystrophy and other inherited demyelinating polyneuropathies. To evaluate the consistency of this principle, we reviewed nerve conduction studies in 9 children with late-infantile or early-juvenile metachromatic leukodystrophy. Each child had significant slowing of motor nerve conduction velocity (NCV). The compound muscle action potentials showed abnormal temporal dispersion in 3 of the 9 children, which is usually regarded as the hallmark of acquired demyelinating polyneuropathies. There are reports of multifocal slowing in other hereditary processes including X-linked Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and adrenomyeloneuropathy. Although multifocal NCV slowing in a child with polyneuropathy is seen most commonly in acquired conditions, a hereditary process, including MLD, cannot always be excluded in this setting.

show abstract

Section: Discussionmentioning

confidence: 97%

Multifocal slowing of nerve conduction in metachromatic leukodystrophy

et al. 2004

View full text Add to dashboard Cite

show abstract

“…In Pelizaeus-Merzbacher disease (PMD), Logan and Taylor found delayed VEPs and an absent central response on SEP. In metachromatic leukodystrophy (MLD), WuljJand Trojaborg (11) found abnormal VEPs and SERs but normal auditory evoked responses in two cases of MLD, a finding supported by Logan and Taylor (7). These authors also reported four patients with mixed sulfatase deficiency in whom the auditory evoked responses and SERs were abnormal or absent but the VEPs were normal.…”

Section: Jjv/divmentioning

confidence: 75%

A Study of Evoked Potentials in the 18q-Syndrome which Includes the Absence of the Gene Locus for Myelin Basic Protein

Rodichok

Miller²

1992

Neuropediatrics

View full text Add to dashboard Cite

We report evoked potential findings in a patient with 18q-syndrome (18q22.3----qter). The deletion included the locus for myelin basic protein (MBP). Clinical manifestations were mild intellectual deficit, involuntary movements and ataxia. MRI of the brain showed diffusely abnormal white matter. Visual evoked responses were normal. Central conduction was prolonged on median somatosensory evoked potentials and no central response was seen with posterior tibial somatosensory potentials. Putative congenital deficiency of MBP does not necessarily cause abnormal visual evoked responses.

show abstract

“…Wulff et al. (9) have reported a patient with normal NCVs, but she had abnormal sensory action potentials suggesting a partial block or slowing in conduction velocity. There are adult and infantile MLD patients reported in the literature who had the clinical pattern of isolated peripheral neuropathy (10–12).…”

Section: Discussionmentioning

confidence: 99%