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Literature DB >> 1428798

Metachromatic leukodystrophy: on an atypical case.

C A Zambrino¹, U Balottin, A Minelli, G Rossi, G Lanzi.

Abstract

We describe an atypical case of juvenile metachromatic leukodystrophy. Motor conduction velocity was still within the normal range 3 years after clinical onset, in contrast to what is commonly found in this disease. Another unusual feature is the normal level of CSF protein. These data are discussed in the light of the sural nerve biopsy findings, which revealed only slight impairment.

Entities: Disease Gene

Mesh：

Year: 1992 PMID： 1428798 DOI： 10.1007/bf02233408

Source DB: PubMed Journal: Ital J Neurol Sci ISSN： 0392-0461

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References

10 in total

1. PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUKODYSTROPHY (SULPHATIDE LIPIDOSIS).

Authors: P M FULLERTON
Journal: J Neurol Neurosurg Psychiatry Date: 1964-04 Impact factor: 10.154

2. A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.

Authors: H Pilz; H C Hopf
Journal: J Neurol Neurosurg Psychiatry Date: 1972-06 Impact factor: 10.154

3. Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.

Authors: A D Dayan
Journal: J Neurol Neurosurg Psychiatry Date: 1967-08 Impact factor: 10.154

4. Juvenile metachromatic leucodystrophy. Case report with clinical, histopathological, ultrastructural and biochemical observations.

Authors: C Haberland; E Brunngraber; L Witting; A Daniels
Journal: Acta Neuropathol Date: 1973-10-11 Impact factor: 17.088

Metachromatic leukodystrophy: on an atypical case.

1. PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUKODYSTROPHY (SULPHATIDE LIPIDOSIS).

2. A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.

3. Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.

4. Juvenile metachromatic leucodystrophy. Case report with clinical, histopathological, ultrastructural and biochemical observations.

5. Sensory potentials in polyneuropathy.

6. Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report.

7. An atypical case of infantile globoid cell leukodystrophy.

8. Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies.

9. An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.

10. Metachromatic leucodystrophy: review of 38 cases.