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247 Possible Causes for Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com]

  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[accessanesthesiology.mhmedical.com] quadriplegia, seizures, mental retardation, hyperactivity).[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the VPS53 Gene
  • Proud Syndrome

    Abby is one of 14 finalists chosen from 4,500 entries to be a face of the range A mum has described her excitement and pride after her daughter was unveiled as the new face of a popular yogurt. Ann Dillon is the proud mum of 19-month-old Abby, who has Down Syndrome and has just been revealed as one of the[…][independent.ie]

    Missing: Mutation in the VPS53 Gene
  • X-Linked Spastic Paraplegia Type 2

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] We report spastic paraplegia type 2 in three individuals in one family.[ncbi.nlm.nih.gov] […] gene (PLP1) mutations result in a continuum of neurological findings characterized by X-linked hypomyelinating leukodystrophies of the central nervous system, from mild spastic[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Radiculomyelopathy

    In 18 cases, after a variable interval, the upper limbs became involved, producing a spastic quadriplegia… The pattern resembled in many ways that of spondylitic myelopathy[fluoridealert.org] Myelopathic features are characterized by a more abrupt onset and include spastic paraplegia or quadriplegia, hyperreflexia, Babinski reflex, clonus, or a variety of sensory[fluoridealert.org] This usually started in one leg, with later progression to the other.[fluoridealert.org]

    Missing: Mutation in the VPS53 Gene
  • Spastic Paraplegia

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] We report spastic paraplegia type 2 in three individuals in one family.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Juvenile Primary Lateral Sclerosis

    […] disorders including pseudobulbar palsy and spastic quadriplegia.[orpha.net] Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs.[thieme-connect.com] During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron[orpha.net]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Recessive Primary Microcephaly Type 10

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[mendelian.co] […] in the TSEN34 gene ( OMIM ) on chromosome 19q13.[mendelian.co]

    Missing: Progressive Spastic Quadriplegia
  • Congenital Hypothyroidism without Goiter

    Progressive hypertonicity of the limbs leads to spastic quadriplegia and joint contractures.[ncbi.nlm.nih.gov] Clinical features The disorder causes severe cognitive deficiency , infantile hypotonia that progresses to spastic quadriplegia with hyperreflexia, contractures, Babinski[bredagenetics.com] Clinical features The disorder causes severe cognitive deficiency, infantile hypotonia that progresses to spastic quadriplegia with hyperreflexia, contractures, Babinski sign[bredagenetics.com]

    Missing: Mutation in the VPS53 Gene
  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[ncbi.nlm.nih.gov] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[disability-benefits-help.org]

    Missing: Mutation in the VPS53 Gene

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