Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia

Common Name(s)

Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia

Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by {2:Dick et al., 2010}). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. {5:Kruer et al. (2010)} referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A ({270800}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia" for support, advocacy or research.

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Scientific Literature

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The terms "Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia" returned 0 free, full-text research articles on human participants.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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