Create issue ticket

465 Possible Causes for Increased Ankle Reflex, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Pontocerebellar Hypoplasia Type 2E

    Her tone was increased in both upper and lower extremities with brisk tendon reflexes and bilateral ankle clonus. Babinski sign was positive bilaterally.[annalsofian.org] 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]

  • Spastic Paraplegia

    […] of deep tendon reflexes in the legs, loss of ankle flexibility, and decrease of sensation in the legs.[encyclopedia.com] 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] Deep tendon reflexes are pathologically increased (3 to 4 ) in the lower extremities.[slideshare.net]

    Missing: Mutation in the VPS53 Gene
  • Hereditary Spastic Paraplegia

    […] of deep tendon reflexes in the legs, loss of ankle flexibility, and decrease of sensation in the legs.[encyclopedia.com] Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] Deep tendon reflexes are pathologically increased (3 to 4 ) in the lower extremities.[slideshare.net]

    Missing: Mutation in the VPS53 Gene
  • Stroke

    Anatomical vessel obstacles such as an intracranial stenosis in stroke are challenging and may lead to delayed clot access for thrombectomy. We describe a simple and effective technique to overcome the step-off between the intermediate catheter and an intracranial vessel stenosis during thrombectomy. The patient[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Cerebral Thrombosis

    In analyzing cerebral thrombosis at altitude--own case and in the literature--we anatomically confirmed that cerebral thrombi in mountain sickness were all of venous origin. All climbers went higher than 5,000 m and most stayed in that altitude longer than 3 weeks. Hemoconcentration was confirmed in two cases,[…][ncbi.nlm.nih.gov]

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

    Uncontrolled hyperthyroidism in pregnancy is associated with an increased risk of perinatal complications. The state of the art discussed here has been derived through a wide MEDLINE search throughout English-language literature by using a combination of words such as hyperthyroidism, propylthiouracil (PTU),[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Primary Progressive Multiple Sclerosis

    We present three patients with a clinical course and cerebrospinal fluid findings consistent with a diagnosis of primary progressive multiple sclerosis (PPMS). Extensive and repeated magnetic resonance imaging (MRI) examinations showed only diffuse abnormality in brain and spinal cord, but no focal lesions. We propose[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Cervical Spondylosis

    The authors describe a rare case of diaphragmatic paralysis caused by cervical spondylosis. A 64-year-old man presented with dyspnea as well as cervical radicular pain and left-sided upper-extremity motor weakness. Chest radiography revealed elevation of both sides of the diaphragm. All symptoms were ameliorated[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Cerebral Hemorrhage

    Intracerebral hemorrhage is a rare event during pregnancy that can result in serious morbidity and mortality for the mother and infant. In this article, we describe a case involving a multiparous woman at 34 weeks gestation who presented with a 5-cm intracerebral bleed. Within 2 hours of presenting, she underwent[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Graves Disease

    Background Graves disease, named after Robert J. Graves, MD, [1] circa 1830s, is an autoimmune disease characterized by hyperthyroidism due to circulating autoantibodies. Thyroid-stimulating immunoglobulins (TSIs) bind to and activate thyrotropin receptors, causing the thyroid gland to grow and the thyroid follicles[…][emedicine.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia