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Spinocerebellar Ataxia Type 5

SCA5


Presentation

  • The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia[ncbi.nlm.nih.gov]
  • Occasionally defects of the visual field and horizontal gaze palsy can be also present.[orpha.net]
  • The present invention also provides isolated polynucleotides having a mutation present in an SCA5 polynucleotide.[lens.org]
  • The pedigree of the family is presented in (Figure 2). His grandmother’s father presented with walking unsteady for his old age (Specific age unknown).[oatext.com]
Short Stature
  • A form of spinocerebellar ataxia (OMIM:606937) characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar[medical-dictionary.thefreedictionary.com]
  • Short stature and microcephaly were also reported. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.[malacards.org]
Tall Stature
  • The identification of the Marfan gene at Hopkins (Nature 352, 279-81 [1991]) sparked debate concerning testing of President Lincoln's DNA to determine whether his tall stature could have been caused by that disease.[rxpgnews.com]
Ascitic Fluid
  • Physical form Ascites fluid containing no preservatives. Application Immunohistochemistry: A 1:500-1:5000 dilution of a previous lot was used in IH. Immunoprecipitation: A 1:500-1:5000 dilution of a previous lot was used in IP.[sigmaaldrich.com]
Proportionate Short Stature
  • A form of spinocerebellar ataxia (OMIM:606937) characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar[medical-dictionary.thefreedictionary.com]
High Pitched Voice
  • He was rescued by an admiral, who was himself rather giddy. [23 p369] President Lincoln's Voice Although Lincoln had a high-pitched voice that would become shrill when he was excited, none of the dozen or so written descriptions of his voice mention anomalous[physical-lincoln.com]
Gagging
  • Uvula in center, gag reflex exist, Limb muscle tension normal, strength grade V, left strength was slightly weak. Tendon reflex is active, ankle clonus is positive. Double side pathological sign is positive. Left body pain is decline.[oatext.com]
Long Arm
  • In addition, disruption of protein transport through the long arms of nerves called axons occurs in Alzheimer's disease, he added.[rxpgnews.com]
  • arms and giant hands swung down by his side.[physical-lincoln.com]
Psychomotor Retardation
  • A form of spinocerebellar ataxia (OMIM:606937) characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar[medical-dictionary.thefreedictionary.com]
Dysmetria
  • Mild or moderate cerebellar ataxia was present in the upper and lower limbs, with all affected patients showing signs of dysmetria, overshoot on ballistic tracking movements, abnormal ramp tracking in the upper limbs, and dyssynergia and dysmetria in[jnnp.bmj.com]
  • There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements. There may be movement disorders.[patient.info]
  • Examination was noteworthy for mild dysarthria, slowing of saccades and gaze-holding difficulty, diffuse hyporeflexia, mild dysmetria and dysdiadochokinesis, and gait ataxia. The patient's daughter had similar findings but was areflexic.[jamanetwork.com]
  • Schmahmann JD: Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 2004;16:367-378.[karger.com]
  • Additional neurological examination revealed dysarthria, oculomotor problems such as slowing saccades and ocular dysmetria, and decreased vibration sense below the knee in three affected individuals.[link.springer.com]
Hyperreflexia
  • All had at least mild hyperreflexia, with evidence of abnormal reflex spread in the upper and/or lower limbs in four of the six subjects.[jnnp.bmj.com]
  • Discussion Spinocerebellar ataxia type 7 (SCA 7) is a polyglutamine (polyQ) neurodegenerative disease characterized by progressive cerebellar ataxia and retinal degeneration with ophthalmoplegia, hyperreflexia, sensory loss, dysarthria, and dysphagia.[oatext.com]
  • Hyperreflexia and a positive Babinski sign are commonly presently. Mild cognitive impairment and depression have been seen in a minority of patients. Brain MRIs show cerebellar hemispheric and vermian atrophy.[disorders.eyes.arizona.edu]
  • The characteristic presentation of olivopontocerebellar atrophy is progressive, symmetric cerebellar dysfunction in childhood, followed by dysarthria , spasticity, and hyperreflexia.[medlink.com]
  • Nystagmus, broken pursuits, hyperreflexia and Babinski sign were observed and she had a moderate degree of intention tremor and gait ataxia on examination. Radiologically, no obvious atrophic changes were observed in the MRI brain scan.[brain.oxfordjournals.org]
Downbeat Nystagmus
  • The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy.[ncbi.nlm.nih.gov]
  • Two of the six demonstrated downbeat nystagmus in the primary position on ophthalmoscopy, and one of these and one other displayed upwards gaze evoked nystagmus on upgaze. Smooth pursuit eye movements were mildly broken up in four.[jnnp.bmj.com]
  • nystagmus , positional vertigo Symptoms can appear for the first time as late as 65 years old.[ipfs.io]
Clonus
  • Tendon reflex is active, ankle clonus is positive. Double side pathological sign is positive. Left body pain is decline. Deep feeling is existed. Both finger-nose test and heel-knee-tibia test is a bit poor in two side.[oatext.com]
  • Two had a mild spastic catch at the knees (Modified Ashworth Scale grade 1), but ankle clonus was absent and Babinski reflexes were downgoing in all. Two of the six subjects demonstrated decreased distal pinprick sensation in the lower limbs.[jnnp.bmj.com]
Abnormal Reflex
  • All had at least mild hyperreflexia, with evidence of abnormal reflex spread in the upper and/or lower limbs in four of the six subjects.[jnnp.bmj.com]

Workup

  • Further genetic workup revealed 96 CAG repeat expansion compared with a normal of Spinocerebellar ataxia Type 7 is a disease of expanded CAG repeats showing genetic anticipation.[journals.lww.com]
  • In selected patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 might be considered during the diagnostic workup.[movementdisorders.org]

Treatment

  • Divided into 55 chapters, it discusses the basic science, clinical concepts, diagnosis and treatment of numerous conditions.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis Prognosis is highly variable between the different types but improvement is unlikely.[patient.info]
  • References: [1] [4] Prognosis[amboss.com]
  • Disease progression and severity often depend on the type of SCA. [1] Most available information on the prognosis of SCA is based on the four most common types: SCA1 , SCA2 , SCA3 and SCA6 .[rarediseases.info.nih.gov]
  • Prognosis The prognosis for a person with ataxia depends upon the type and nature of the disease. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability.[encyclopedia.com]
  • Prognosis Spinocerebellar ataxias due to repeat expansion mutations usually become sick in middle age. In addition to ataxia, other neurological findings are often present depending on the variant of SCA.[verywell.com]

Etiology

  • Etiology SCA5 is caused by mutations in the SPTBN2 gene (11q13.2) encoding beta-III spectrin, a protein essential for the correct functioning and development of Purkinje cells.[orpha.net]
  • She divided those with a known etiology (eg, abetalipoproteinemia , ataxia-telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia).[medlink.com]
  • Etiology Clinical features Diagnostics The diagnosis is clinical and based on family history and neurological examination . Further tests help identify the specific cause and type of SCA.[amboss.com]
  • CCA was defined as an SCA of unknown etiology with imaging evidence of isolated cerebellar atrophy.[movementdisorders.org]

Epidemiology

  • Summary Epidemiology The prevalence is unknown. Three families (American, French and German) with SCA5 have been reported to date. Clinical description The mean age of onset is 33 years but it can range from 10-68 years.[orpha.net]
  • Epidemiology References: [1] [2] Epidemiological data refers to the US, unless otherwise specified. Etiology Clinical features Diagnostics The diagnosis is clinical and based on family history and neurological examination .[amboss.com]
  • […] commonly at allele 37 (72%). 5 The vast majority (89%) of offspring of SGA2 confirmed patients have been shown to have expansions, whereas the remaining 11% have contracted cytosine, adenine, and guanine repeats with incomplete penetrance. 5 Limited epidemiologic[neurologyadvisor.com]
  • Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ].[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • Stage 1 is asymptomatic and largely undetectable, despite underlying pathophysiologic processes.[neurologyadvisor.com]
  • Pathophysiology [ edit ] Most cases of SCA6 are a result of CAG repeat expansion beyond the normal range, i.e., more than 19 repeats, in the Ca v 2.1 calcium channel encoding gene CACNA1A. [1] This gene has two splice forms , "Q-type" and "P-type", and[en.wikipedia.org]
  • […] and body sway during the 2-week titration period as well as the 8-week reassessment. [31] Insulin-Like Growth Factor Insulin-like growth factor-1 (IGF-1) acts as a neuromodulator in the CNS. [32] Disturbances in CNS signaling pathways may produce the pathophysiological[movementdisorders.org]
  • Matilla‐Dueñas A, Goold R and Giunti P (2008) Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum 7(2): 106–114.[els.net]
  • "Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation . 25 (3): 195–216. doi : 10.1177/0269215510382495 . PMID 21321055 . "SCA2 information sheet from www.ataxia.org" (PDF) .[ipfs.io]

Prevention

  • Furthermore, L253P beta-III spectrin prevents correct localization of WT beta-III spectrin and prevents EAAT4, a protein known to interact with beta-III spectrin, from reaching the plasma membrane.[ncbi.nlm.nih.gov]
  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.ro]
  • Prevention of secondary complications: Joint contractures can be prevented by appropriate physiotherapy. Surveillance: annual neurologic examination.[lacaf.org]
  • Prevention/Screening [ edit ] There is no known prevention of spinocerebellar ataxia. Those who are believed to be at risk can have genetic sequencing of known SCA loci performed to confirm inheritance of the disorder.[en.wikipedia.org]
  • Specifically, they sop up the nerve transmitter glutamate and prevent harmful over-stimulation. That overstimulation, or excitotoxicity, kills nerve cells both in SCA5 and in ALS, though some of the particulars differ.[hopkinsmedicine.org]

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