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28 Possible Causes for Allelic to Spastic Paraplegia Type 2

  • Pelizaeus-Merzbacher Disease

    Abstract Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia type 2 (SPG2), are among the best-characterized dysmyelinating leukodystrophies of[ncbi.nlm.nih.gov] Abstract Pelizaeus-Merzbacher disease (PMD) and the allelic spastic paraplegia type 2 (SPG2) arise from mutations in the X-linked gene encoding myelin proteolipid protein[ncbi.nlm.nih.gov] PURPOSE: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders that principally affect males and are caused by mutations in the proteolipid[ncbi.nlm.nih.gov]

  • X-Linked Spastic Paraplegia Type 2

    Abstract Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia type 2 (SPG2), are among the best-characterized dysmyelinating leukodystrophies of[ncbi.nlm.nih.gov] Abstract Spastic paraplegia type 2 (SPG2) is allelic to Pelizaeus-Merzbacher disease (PMD), with both conditions resulting from mutations in the proteolipid protein gene ([ncbi.nlm.nih.gov] PLP1 partial deletion is a rare cause of spastic paraplegia type 2 and exhibits X-linked dominant inheritance with variable expressivity.[ncbi.nlm.nih.gov]

  • X-Linked Spastic Paraplegia Type 34

    […] disorder, spastic paraplegia type 2 (SPG2), are among the best-characterized dysmyelinating leukodystrophies of the central nervous system (CNS).[scipers.com] National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan خلاصه مقاله: Pelizaeus-Merzbacher disease (PMD) and its allelic[scipers.com]

  • Multiple Sclerosis

    Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations[ncbi.nlm.nih.gov]

  • Central Positional Vertigo

    Missense mutations give rise to more severe forms of the disease (connatal), whereas deletions and null mutations to mild PMD and spastic paraplegia type 2 (SPG2), a milder[omicsonline.org] PMD allelic disorder.[omicsonline.org]

  • Spastic Paraplegia

    PLP1 partial deletion is a rare cause of spastic paraplegia type 2 and exhibits X-linked dominant inheritance with variable expressivity.[ncbi.nlm.nih.gov] X-inactivation study and sequencing of the undeleted PLP1 alleles failed to explain the differences in severity between the two female patients.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Mutations of this gene have also been shown to cause a wide variety of other disorders (allelic disorders) including familial partial lipodystrophy type 2 (Dunnigan lipodystrophy[rarediseases.org] ), mandibuloacral dysplasia, a couple forms of Emery-Dreifuss muscular dystrophy, a form of limb-girdle muscular dystrophy, a form of hereditary spastic paraplegia, a form[rarediseases.org]

  • Congenital Muscular Dystrophy

    Mutations of this gene have also been shown to cause a wide variety of other disorders (allelic disorders) including familial partial lipodystrophy type 2 (Dunnigan lipodystrophy[rarediseases.org] ), mandibuloacral dysplasia, a couple forms of Emery-Dreifuss muscular dystrophy, a form of limb-girdle muscular dystrophy, a form of hereditary spastic paraplegia, a form[rarediseases.org]

  • Hypomyelinating Leukodystrophy Type 5

    PMD is allelic with a relatively mild disorder, X-linked spastic paraplegia type 2 (SPG2), also caused by PLP1 mutations [ Saugier-Veber et al., 1994 ].[clinicalgate.com]

  • Hereditary Spastic Paraplegia

    Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD).[ncbi.nlm.nih.gov] […] two male siblings with X-linked spastic paraplegia 2 (PLP1).[ncbi.nlm.nih.gov] Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness[ncbi.nlm.nih.gov]

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