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1,135 Possible Causes for Generalized Motor Seizure, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • 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[] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[]

    Missing: Mutation in the VPS53 Gene
  • Alpers Syndrome

    Children present with seizures in half of the cases. Seizures may be focal, generalized or myoclonic.[] Symptoms of Alpers include EPC, organ failure, strokes, hypotonia (low muscle tone) – leading to quadriplegia, spasticity, progressive dementia, blindness and deafness.[] […] to quadriplegia, and progressive dementia.[]

    Missing: Mutation in the VPS53 Gene
  • 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[] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[] 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.[]

    Missing: Generalized Motor Seizure
  • Hyperargininemia

    In children, the most common type of HSV is type 1, and generally affects the frontotemporal lobes of the brain affecting cognition and motor function.[] Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[]

    Missing: Mutation in the VPS53 Gene
  • Kearns-Sayre Syndrome

    Retinitis pigmentosa, ophthalmoplegia and spastic quadriplegia. Am J Ophthalmol 1957;43:231-40. 10. Kiloh LG, Nevin S.[] Progressive dystrophy of the external ocular muscles (Ocular myopathy). Brain 1951;74:115-43. 11. McKechnie NM, King M, Lee WR.[]

    Missing: Mutation in the VPS53 Gene
  • Nonketotic Hyperglycinemia

    We experienced a 6-year-old girl with spastic quadriplegia, intractable epilepsy, and mental retardation, all initially regarded as sequelae of neonatal meningitis.[] Head MRI revealed progressive brain atrophy and white matter loss with high intensity signals on T2-weighted and diffusion-weighted images, which prompted us to conduct further[]

    Missing: Mutation in the VPS53 Gene
  • Alcohol Abuse

    This paper reports the author's experiences with alcohol abusers in their initial or premorbid phase. The emphasis is on their superego conflicts and how these conflicts relate to their alcohol abuse. The adaptational function of their heavy drinking pattern is to neutralize an archaic persecutive superego through[…][]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Hypoglycemia

    Intern Med. 2016;55(8):949-53. doi: 10.2169/internalmedicine.55.5737. Epub 2016 Apr 15. Author information 1 Department of Endocrinology and Metabolism, Dokkyo Medical University, Japan. Abstract We encountered a 62-year-old woman who experienced frequent episodes of hypoglycemia. She was diagnosed with postprandial[…][]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Hyponatremia

    […] phenomena. [15] In a complex partial seizure a person may appear confused or dazed and can not respond to questions or direction.[] Focal seizure may become generalized. [15] Jerking activity may start in a specific muscle group and spread to surrounding muscle groups—known as a Jacksonian march. [16][] Focal seizures [ edit ] Focal seizures are often preceded by certain experiences, known as an aura. [12] These may include sensory, visual, psychic, autonomic, olfactory or motor[]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Chronic Alcoholism

    The concept of "structural plasticity" has emerged as a potential mechanism in neurodegenerative and psychiatric diseases such as drug abuse, depression, and dementia. Chronic alcoholism is a progressive neurodegenerative disease while the person continues to abuse alcohol, though clinical and imaging studies show[…][]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia