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Autosomal Dominant Sensory Ataxia

Autosomal Dominant Sensory Ataxia 1


Presentation

  • Abstract We present phenotypic and genotypic data for an additional family with autosomal dominant sensory ataxia, a disease characterized by gait difficulties associated with diminished sensation in the limbs and areflexia.[ncbi.nlm.nih.gov]
  • He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present).[books.google.com]
  • One deletion of 150 kb was present in both individuals in the candidate interval.[academic.oup.com]
Fishing
  • […] with ADSA, at the equivalent position in the orthologous fish gene ( Supplementary Material ).[academic.oup.com]
  • Exposure to high levels of methylmercury, through consumption of fish with high mercury concentrations, is also a known cause of ataxia and other neurological disorders.[novenachiropractic.com.sg]
Down Syndrome
  • Agency ADSA American Domestic Skunk Association (educational group) ADSA AIDS Day Services Association ADSA Assistance Dog Special Allowance ADSA Advanced Database Systems and Applications ADSA Assistant Director of Student Activities ADSA Australian Down[acronyms.thefreedictionary.com]
Muscle Twitch
  • The episodes are triggered by stress, being startled, or sudden movement and are often associated with muscle twitching. EA2 involves longer periods, commonly lasting from a half-hour to six hours, which are triggered by stress.[disabled-world.com]
Hearing Impairment
  • Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33 q34, and with hearing impairment and optic atrophy[karger.com]
Suggestibility
  • Amyloid precursor protein (APP) immunostaining of some of the spheroids suggested continuing dysfunction of axoplasmic flow in some regions.[ncbi.nlm.nih.gov]
  • These results suggest that the loss of Rnf170 gene function mediates ADSA-associated phenotypes and this gives insights on the cure of patients with ADSA and other age-dependent walking abnormalities. The Author 2015.[ncbi.nlm.nih.gov]
  • Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia in these families.[ncbi.nlm.nih.gov]
  • The extreme rarity of the human clinical phenotype suggested to us that the missense mutation in RNF170 might be a gain-of-function allele.[academic.oup.com]
  • Conclusions: Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia in these families.[neurology.org]
Areflexia
  • Abstract We present phenotypic and genotypic data for an additional family with autosomal dominant sensory ataxia, a disease characterized by gait difficulties associated with diminished sensation in the limbs and areflexia.[ncbi.nlm.nih.gov]
  • Areflexia MedGen UID: 115943 • Concept ID: C0234146 • Finding A finding indicating the complete absence of neurological reflexes.[ncbi.nlm.nih.gov]
  • Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities.[mendelian.co]
Hyporeflexia
  • Hyporeflexia MedGen UID: 195967 • Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction.[ncbi.nlm.nih.gov]
  • , dementia SCA22 (one Chinese family) 1q21-q23 Chinese family, age at onset 10-46, gait ataxia, dysarthria, hyporeflexia, slowly progressive pure cerebellar ataxia and atrophy; might be allelic with SCA19 SCA23 (one Dutch family) 20p13-p12.3 Ataxia, decreased[bcm.edu]
  • […] was statistically significant owing to the small SCA1 sample size (slow saccades χ 2  0.64, p   0.42; hyporeflexia χ 2  0.71, p   0.40).[jnnp.bmj.com]
  • […] with us Learn more Other less frequent symptoms Patients with Ataxia and Peripheral neuropathy. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Sensory neuropathy Nystagmus Sensory impairment Areflexia Hyporeflexia[mendelian.co]
  • Postural and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia Dysarthria with scanning speech and dysphagia Intermittent[emedicine.medscape.com]
Myelopathy
  • Tumour Spinal Vascular malformation AIDS vacuolar myelopathy Those that also may affect the peripheral nerves: Friedreich’s ataxia Neurosyphilis (tabes dorsalis) Nitrous oxide Vitamin B12 deficiency a.k.a. subacute combined degeneration of the spinal[learningneurology.com]
  • PMID 9184691 . v t e Lesions of spinal cord and brain Spinal cord / vascular myelopathy sensory: Sensory ataxia Tabes dorsalis motor: Motor neuron disease mixed: Brown-Séquard syndrome cord syndrome ( Posterior Anterior Central / Syringomyelia ) Subacute[en.wikipedia.org]
  • […] acute transverse myelitis AIDS myelopathy multiple sclerosis tumor epidural compression syndrome vascular malformations Polyneuropathy or myelopathy Friedrich’s ataxia tabes dorsalis vitamin B12 deficiency vitamin E deficiency Jeff Mann’s Disclaimer[lifeinthefastlane.com]
  • Pyramidal signs, sensory loss: acquired myelopathies; genetic myelopathies [adrenomyeloneuropathy; hereditary spastic paraparesis (HSP)]; Friedrich’s ataxia (FA); MS; NS.[practicalneurology.com]
  • MRI reveals confluent leukoencephalopathy, even in the absence of anemia or myelopathy. VEP and SEP are frequently abnormal. SNAPs are absent or reduced i n about 80% of patients and motor NCVs show axonal and demyelinating features.[neuroweb.us]
Babinski Sign
  • Babinski sign MedGen UID: 19708 • Concept ID: C0034935 • Finding A reflex characterized by upward movement of the great toe and an outward movement of the rest of the toes, when the sole of the foot is stroked.[ncbi.nlm.nih.gov]
  • sign Rigidity Abnormality of movement Bradykinesia Trophic changes related to pain Action tremor Atonic seizures Distal muscle weakness Optic neuropathy Parkinsonism Hypokinesia Slurred speech Optic atrophy Generalized seizures Optic disc pallor Pallor[mendelian.co]
  • Clinical features Areflexia, proprioceptive dysfunction, loss of reflexes, and Babinski sign (prominent findings) By 5-10 years, gait disturbances and cerebellar signs Malabsorptive state in the early years with steatorrhea and abdominal distension Pes[emedicine.medscape.com]
  • FRIEDREICH’S ATAXIA  CLINICAL SYNOPSIS Gene Map Locus: 9q13 GAA 66- 1700 ( N 42)  Neurological: Cerebellar ataxia Dysarthria Nystagmus Incoordined limb movements Diminished or absent tendon reflexes Babinski sign Impaired position & vibratory sense[slideshare.net]
Abnormal Gait
  • Motor examination will be remarkable for weakness, abnormal gait, and ataxia or pseudo-ataxia in Guillain-Barré syndrome, myasthenia gravis, and tick paralysis.[lecturio.com]
  • Ataxia is a neurological feature of abnormal gait due to the lack of appropriate muscle coordination and it is a common clinical symptom in hundreds of different diseases.[centogene.com]
  • Other main symptoms are irregularities in the retina of the eye, bone and skin changes, and the abnormal gait, speech patterns, and muscle movements associated with cerebellar ataxia.[encyclopedia.com]

Workup

  • […] in the ED for a stable patient with an acute cerebellar syndrome can be initiated following consultation with a neurologist, and the workup may include blood tests (including heavy metals, serum ETOH and anticonvulsant drug levels), neuroimaging to exclude[lifeinthefastlane.com]
Posterior Fossa Cysts
  • الصفحة 175 - Revised classification of posterior fossa cysts and cyst-like malformations based on the results of multiplanar MR imaging. ‏[books.google.com]
Gliosis
  • Microscopically, there were occasional swollen axons within the cerebral cortex and deep nuclei, particularly the subthalamic nucleus, with no neuronal loss, gliosis or microglial activation.[ncbi.nlm.nih.gov]
  • Microscopic examination of these structures reveals neuronal loss, axon and myelin degeneration, and gliosis. Similar changes are seen in autonomic nuclei of the hypothalamus, brainstem and spinal cord and in many other nuclei.[neuropathology-web.org]
  • Pathophysiology The major pathophysiologic finding in Friedreich ataxia is a "dying back phenomena" of axons, beginning in the periphery with ultimate loss of neurons and a secondary gliosis.[emedicine.medscape.com]
  •  diabetes mellitus  onset after 40 yr, paternal maternal anticipation  I- earlier onset(5-30), II- intermediate( 36 yr),  III- cerebellar,PN,Optho( 40yr), IV- parkinsonian, fasciculations, sensory(38-47yr levodopa responsive)  neuronal loss and gliosis[slideshare.net]
  • Pathologic features include nerve cell loss and gliosis affecting the dentate nucleus, red nucleus, pallidum, and subthalamic nucleus of Luys. The age of onset varies. It has been reported in Japan and Europe.[emedicine.medscape.com]

Treatment

  • Treatment and therapy is very specific to the individual’s needs as they work closely with their team.[belmarrahealth.com]
  • Management and treatment Treatment is based on a lifelong high-dose vitamin E supplementation, which should be taken every day. When treated early, some symptoms could be reversible; in older patients disease progression can be slowed.[orpha.net]
  • See In Focus: Friedreich's Ataxia for a 2011 report on the status of FA research and treatments.[mda.org]
  • Treatment There are few treatments for cerebellar ataxia, and medications that are capable of slowing the progression of degenerative diseases of the cerebellum are lacking.[britannica.com]
  • Speech and language therapy, occupational therapy, and physical therapy are common treatment options. They are sometimes used in conjunction with medication therapy to help manage symptoms. There is no treatment or cure for Ataxia yet.[ataxia.org]

Prognosis

  • What is the prognosis for ataxia? Ataxia is the sign of an underlying disease or illness and the prognosis depends upon the response to treatment of that underlying cause.[medicinenet.com]
  • Prognosis Even if treated, patients frequently have a poor prognosis and become wheelchair bound within 8 and 20 years of age. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Treatment and prognosis Treatment is complex and non-curative, with focuses on family education, genetic counseling, symptom management, and supportive care 4.[radiopaedia.org]
  • 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]
  • CMT in pregnancy increases the risk for complications during delivery and a higher risk of intervention. [ 11 ] Prognosis This is dependent on subtype; clinical impairment and disability correlate with axonal loss: Most patients with CMT1A have normal[patient.info]

Etiology

  • […] pt while lying down in bed shows no manifestation and N coordinated limb movements. on getting up, there is difficulty in keeping balance while standing or walking, stand on a wide base, swaying f one side to other side and may fall in any direction etiology[quizlet.com]
  • Etiology AVED is caused by mutations in the tocopherol (alpha) transfer protein gene ( TTPA ; 8q13). This protein binds alpha-tocopherol (a vitamin E isomer) and very-low-density lipoproteins (VLDLs) in the liver.[orpha.net]
  • Perhaps the most helpful way to organize the various etiologies is to first separate the causes into acquired and inherited.[clinicaladvisor.com]
  • All possible etiologies should be considered when the clinical course is not firmly established.[practicalneurology.com]
  • Sensory ataxia has a number of treatable etiologies. Needless to say that focused laboratory testing should be carried out in all cases to nail the cause and offer appropriate treatment.[bioline.org.br]

Epidemiology

  • National Ataxia Foundation Epidemiology There are no precise data regarding the prevalence of ataxia of all causes. [1] Polo JM, Calleja J, Combarros O, et al. Hereditary ataxias and paraplegias in Cantabria, Spain.[us.bestpractice.bmj.com]
  • SCA 46: Ataxia, Sensory Neuropathy Cerebellar 1 Phospholipase D family, member 3 (PLD3) ; Chromosome 19q13.2; Dominant Epidemiology: 1 Dutch family; 5 patients Genetics Mutation: Missense; Leu308Pro PLD3 protein Catalyze hydrolysis of membrane phospholipids[neuromuscular.wustl.edu]
  • Summary Epidemiology Global prevalence is not known but population-based studies have been performed and prevalence can be extrapolated at approximately 1/300,000. AVED is the second most frequently inherited cerebellar ataxia in North Africa.[orpha.net]
  • Relevant External Links for RNF170 Genetic Association Database (GAD) RNF170 Human Genome Epidemiology (HuGE) Navigator RNF170 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RNF170 No data available for Genatlas for RNF170 Gene A mutation[genecards.org]
  • Epidemiology It is the most common inherited neuromuscular disorder affecting 1 in 2,500 people. [ 1 ] It has no predilection for a particular race or sex.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • These data provided the full pathophysiology of the phenotype, including the identification of the genetic etiology and the physiologic changes of reduced mtDNA content inducing mtDNA depletion.[medlink.com]
  • The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol. 2012;38:4-24. PubMed Koeppen AH, Mazurkievicz JE. Friedreich Ataxia: Neuropathology Revised. J Neuropathol Exp Neurol 2013;72(2):78-90.[neuropathology-web.org]
  • Pathophysiology The major pathophysiologic finding in Friedreich ataxia is a "dying back phenomena" of axons, beginning in the periphery with ultimate loss of neurons and a secondary gliosis.[emedicine.medscape.com]
  • The pathophysiology of cerebellar ataxias is as diverse as the various neurological and systemic diseases affecting the cerebellum.[practicalneurology.com]
  • In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis.[acnr.co.uk]

Prevention

  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.com]
  • 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.com]
  • When mutated, TTPA prevents vitamin E linking to VLDLs, preventing it to pass into general circulation.[orpha.net]
  • Can ataxia be prevented? Since ataxia is the sign of an underlying disease, it may not necessarily be preventable. However, avoiding external causes of ataxia (environmental chemicals and toxins) may prevent some individuals from developing ataxia.[medicinenet.com]
  • Early detection of reversible causes is desirable as they may be remediable and their treatment can prevent permanent dysfunction and disability.[bioline.org.br]

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