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59 Possible Causes for Caused by Mutation in the KIAA0196 Gene (KIAA0196), Spasticity - Hyperreflexia

Did you mean: Caused by Mutation in the KIAA0196 Gene, (KIAA0196), Spasticity - Hyperreflexia

  • Autosomal Dominant Spastic Paraplegia Type 10

    ) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar[orpha.net] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] […] can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 8

    24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes[malacards.org] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] Get Update Overview Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting[diseaseinfosearch.org]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia[malacards.org] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] […] usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 6

    […] usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder[orpha.net] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] […] limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus.[rarediseases.info.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 46

    Affiliated tissues include brain , and related phenotypes are nystagmus and hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in[malacards.org] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] Neurological examination also showed the classic spastic paraplegia symptoms such as proximal weakness of the lower limbs and profound proximal spasticity.[omicsonline.org]

  • Autosomal Dominant Spastic Paraplegia Type 29

    24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes[malacards.org] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] […] pure form of spastic paraplegia with lower limb spasticity , hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype[rarediseases.info.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 56

    , hyperreflexia, lower-limb weakness and decreased vibration sensation 37 yrs, 22 – 60 yrs AD Uncomplicated KIAA0196 (SPG8) DNA Sequencing 25 – 42 yrs AR Uncomplicated/ Paraplegin[1pdf.net] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] , hyperreflexia, extensor plantar responses, and bladder dysfunction).[ng.neurology.org]

  • Spastic Paraplegia

    This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities.[ncbi.nlm.nih.gov] To our knowledge, it's the first frame delete mutation causing shift mutation of KIAA0196 gene, resulting in the earliest onset of SPG8 in the world.[ncbi.nlm.nih.gov] On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 4

    Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia[ncbi.nlm.nih.gov] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia[malacards.org]

  • X-linked Parkinsonism-Spasticity Syndrome

    […] abnormalities on examination of patients with pure HSP include spasticity, hyperreflexia, and extensor plantar responses, with weakness of a pyramidal distribution in the[jnnp.bmj.com] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] HSP is generally classified as pure when lower limb spasticity and weakness, hyperreflexia, extensor-plantar responses, decreased vibration sense at the ankles, bladder dysfunction[omicsonline.org]

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