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Literature DB >> 20148180

HEREDITARY MYELOPATHIES.

Abstract

Hereditary myelopathies are a diverse group of disorders in which major aspects of the clinical syndrome involve spinal cord structures. Hereditary myelopathic syndromes can be recognized as four clinical paradigms: (1) spinocerebellar ataxia, (2) motor neuron disorder, (3) leukodystrophy, and (4) distal motor-sensory axonopathy. This review illustrates these hereditary myelopathy paradigms with clinical examples with an emphasis on clinical recognition and differential diagnosis.

Entities: Disease

Year: 2008 PMID： 20148180 PMCID： PMC2817968 DOI： 10.1212/01.con.0000324124.55065.09

Source DB: PubMed Journal: Continuum (N Y) ISSN： 0195-6043

Keyword Cloud
References

11 in total

1. A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.

Authors: G W BRUYN; L N WENT
Journal: J Neurol Sci Date: 1964 Jan-Feb Impact factor: 3.181

Review 2. Molecular biology of amyotrophic lateral sclerosis: insights from genetics.

Authors: Piera Pasinelli; Robert H Brown
Journal: Nat Rev Neurosci Date: 2006-09 Impact factor: 34.870

3. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Authors: Gert C Scheper; Thom van der Klok; Rob J van Andel; Carola G M van Berkel; Marie Sissler; Joél Smet; Tatjana I Muravina; Sergey V Serkov; Graziella Uziel; Marianna Bugiani; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Jan A M Smeitink; Catherine Florentz; Rudy Van Coster; Jan C Pronk; Marjo S van der Knaap
Journal: Nat Genet Date: 2007-03-25 Impact factor: 38.330

4. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

Authors: Y Yang; A Hentati; H X Deng; O Dabbagh; T Sasaki; M Hirano; W Y Hung; K Ouahchi; J Yan; A C Azim; N Cole; G Gascon; A Yagmour; M Ben-Hamida; M Pericak-Vance; F Hentati; T Siddique
Journal: Nat Genet Date: 2001-10 Impact factor: 38.330

5. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

Authors: James Y Garbern; Donald A Yool; Gregory J Moore; Ian B Wilds; Michael W Faulk; Matthias Klugmann; Klaus-Amin Nave; Erik A Sistermans; Marjo S van der Knaap; Thomas D Bird; Michael E Shy; John A Kamholz; Ian R Griffiths
Journal: Brain Date: 2002-03 Impact factor: 13.501

HEREDITARY MYELOPATHIES.

1. A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.

Review 2. Molecular biology of amyotrophic lateral sclerosis: insights from genetics.

3. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

4. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

5. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

6. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

7. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Review 8. Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.

Review 9. Leukodystrophies: clinical and genetic aspects.

10. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.