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HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. [2]
People with spastic paraplegia 6 generally start showing symptoms during their late teenage years or early adulthood, the symptoms are spasticity affecting the lower limbs, hyperreflexia, high-arched feet (pes cavus), and mild bladder problems. [2] [3] Less common symptoms include epilepsy, peripheral neuropathy of variable degrees, and memory ...
Spastic paraplegia 31 is a rare type of hereditary spastic paraplegia which is characterized by sensation anomalies of the lower extremities. Signs and symptoms [ edit ]
Spastic paraplegia 15 (SPG15) is a form of hereditary spastic paraplegia that commonly becomes apparent during childhood or adolescence (e.g. between ages 5 and 18 years). The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal recessive manner.
Spastic Paraplegia 50 is a neurodegenerative condition, which means it becomes harder for kids who get it to reach developmental milestones as they get older. One Littleton family shares their ...
Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [7] Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). [9] HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs. [9]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Mutations in KIF5A have been reported to cause hereditary spastic paraplegia type 10 (SPG1). [10] Mutations in KIF5A have also been found to cause amyotrophic lateral sclerosis. [11] KIF5A has been shown to play a role in Alzheimer's disease by modulating the toxic effect of beta-amyloid on axonal transport of mitochondria. [12]