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559 Possible Causes for Long Tract Signs, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • 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] tract signs, facial dysmorphism and adducted thumbs.[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]

    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[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]

    Missing: Long Tract Signs
  • Metachromatic Leukodystrophy

    Six years after diagnosis, the other control has a slowly progressive course with spastic dystonic quadriplegia, epilepsy, dysphagia, continual drooling and incontinence.[ncbi.nlm.nih.gov] Our data show that, in comparison with their untreated siblings, UCBT significantly slowed the progression of the disease in the treated patients.[ncbi.nlm.nih.gov] One of the two un-transplanted controls, 15 years after MLD diagnosis, has relentlessly progressed to full dependency with epilepsy, severe mental retardation, dystonic movements[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Alzheimer Disease

    Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2,[…][ncbi.nlm.nih.gov]

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

    The clinical symptoms of cervical spondylotic amyotrophy (CSA) are motor loss or atrophy with an absent or insignificant sensory deficit or a long tract sign; however, the[ncbi.nlm.nih.gov] tract signs and symptoms; 3) a combined syndrome – which includes both root and long tract signs and symptoms and is the commonest form; 4) a vascular syndrome – may not[termedia.pl] Clinical manifestations The clinical definition of a myelopathy is the presence of long tract signs, which are the result of the spinal afferent or efferent (pyramidal) nerve[termedia.pl]

    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
  • Intrapontine Hemorrhage

    Depending on the speed at which the hematoma enlarges and the exact location, presentation may include 1,2 : decreased level of consciousness (most common) long tract signs[radiopaedia.org] Arm and leg weakness, increased deep tendon reflexes, and upward Babinski sign on neurologic examination may result from damage to the long motor tracts traveling from the[childhoodbraintumor.org] Together, these three sets of cranial nerve, long tract and cerebellar signs are known as the “classic triad” of DIPG presentation, though many patients may not demonstrate[childhoodbraintumor.org]

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

    The symptoms and signs depend on the level of the spinal cord affected and the extent of involvement of the long tracts.[prognosisapp.com]

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

    Physical examination commonly elicits long tract signs such as spasticity, hyperreflexia, and abnormal reflexes such as Babinski or Hoffman's sign.[neurosurgery.ucla.edu] […] sensory deficits - may be the least advanced form of the disease; - Brachialgia and cord syndrome: radicular pain in the upper extremity along with motor and/or sensory long-tract[wheelessonline.com] tract signs, ambulatory Class IIIB Objective weakness, long tract signs, non-ambulatory Japanese Orthopaedic Association Classification A point scoring system (17 total)[orthobullets.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Subdural Hematoma

    Chronic subdural hematoma (CSDH) is one of the most common neurological diseases, which mainly occurs among elderly people and usually develop after minor head injuries. Over the years, a simple burr hole evacuation of the hematoma has been accepted as the widespread method for most cases of CSDH, but acute[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia