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Articles tagged with Spastic paraplegia

  • FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

    Major problems with rare diseases are related to the paucity and the heterogeneity of scientific publications. Standardized large-scale data compilation is one approach to overcome these issues. CENTOGENE meticulously curates consented clinical and genetic observation, and openly shares such…

  • Familial Hemiplegic Migraine Panel

    Familial hemiplegic migraine (FHM) is characterized by intense migraine headaches with aura.1. Onset of disease is in first or second decade of life. Positive family history of FHM is acknowledged if at least one first-degree relative or second-degree relative has identical attacks.

  • Expanding the Clinical and Genetic Spectra of NKX6-2-Related Disorder

    Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system, and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD.

  • Hereditary Spastic Paraplegia Type 5: Natural History, Biomarkers and a Randomized Controlled Trial

    Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding…

  • Spastic Paraplegia

    Hereditary Spastic Paraplegia (HSP), also known as SPG (Spastic Paraplegia) is a group of inherited neurological diseases whose main feature is progressive spasticity in the lower limbs as a result of neuronal dysfunction. The condition sometimes also affects the optic nerve and retina or causes…

  • Alsin Related Disorders

    Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the…

  • Hereditary Spastic Paraplegia Associated with Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family

    Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic…