Literature DB >> 11127529

Adult-onset leukodystrophies.

N Baumann1, J C Turpin.   

Abstract

Leukodystrophies are genetic metabolic diseases which generally occur in early childhood at the time of myelination. Surprisingly, these diseases can also occur during adulthood. Adult forms have various clinical presentations which reflect degenerative diseases of the nervous system. The course may last for decades. This contribution describes the main features of adult leukodystrophies and indicates those for which a biochemical and molecular diagnosis are possible. Other articles deal with their differential diagnosis of leukoencephalopathies and with the diagnostic strategy.

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Year:  2000        PMID: 11127529     DOI: 10.1007/s004150070088

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  7 in total

Review 1.  The differential diagnosis of multiple sclerosis.

Authors:  N Scolding
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-12       Impact factor: 10.154

2.  Adult-onset seizure disorder in the 18q deletion syndrome.

Authors:  N Adab; A J Larner
Journal:  J Neurol       Date:  2006-03-20       Impact factor: 4.849

3.  Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.

Authors:  Stefanie H Freeman; Bradley T Hyman; Katherine B Sims; E T Hedley-Whyte; Arastoo Vossough; Matthew P Frosch; Jeremy D Schmahmann
Journal:  Brain Pathol       Date:  2008-04-15       Impact factor: 6.508

4.  A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.

Authors:  Chengyuan Song; Linliu Peng; Shengjun Wang; Yiming Liu
Journal:  J Hum Genet       Date:  2019-08-06       Impact factor: 3.172

Review 5.  Psychiatric manifestations in cerebrotendinous xanthomatosis.

Authors:  M J Fraidakis
Journal:  Transl Psychiatry       Date:  2013-09-03       Impact factor: 6.222

6.  Rapidly progressive dementia and ataxia in an elderly man.

Authors:  Rebekah M Ahmed; G Michael Halmagyi; Michael L Rodriguez
Journal:  Pract Neurol       Date:  2013-03-13

Review 7.  Leukoencephalopathies associated with inborn errors of metabolism in adults.

Authors:  F Sedel; A Tourbah; B Fontaine; C Lubetzki; N Baumann; J-M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2008-02-25       Impact factor: 4.750

  7 in total

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