Edit concept Question Editor Create issue ticket

Adult-Onset Autosomal Recessive Cerebellar Ataxia

SCAR10


Presentation

  • Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease[books.google.com]
  • We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[moh-it.pure.elsevier.com]
  • Occasionally patients will present with late-onset forms of this disease.[neuroweb.us]
  • These patients present with gait ataxia usually with headache and papilledema. Progressive hydrocephalus can also present with subacute-onset ataxia.[jpgmonline.com]
  • Reduced diffusivity and abnormal MR spectroscopy peaks can also be present.[ajnr.org]
Dysmetria
  • They may also have difficulty with movements that involve judging distance or scale ( dysmetria ). Other features of ARCA1 include abnormal eye movements ( nystagmus ) and problems following the movements of objects with their eyes.[en.wikipedia.org]
  • 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]
  • A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features.[emedicine.medscape.com]
  • Clinical examination reveals a gait disorder with imbalance, staggering, and difficulties with tandem walking, upper-limb and lower-limb dysmetria, dysdiadochokinesia (difficulty performing rapidly alternating movements), hypotonia, cerebellar dysarthria[blogs.nejm.org]
  • Clinical features of cerebellar disease  Ataxia (appendicular or axial)  Dysmetria  Dyssynergia  Dysdiadochokinesia  Rebound Phenomenon  Dysarthria  Tremor  Titubation and increased postural sway  Hypotonia  Asthenia  Nystagmus 12.[slideshare.net]
Hyperreflexia
  • -- 18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1[emedicine.medscape.com]
  • […] cerebellar ataxia include peripheral neuropathy (decreased or absent tendon reflexes and decreased ankle reflexes); movement disorders such as chorea, dystonia, and oculomotor abnormalities; pyramidal tract dysfunction such as extensor plantar responses, hyperreflexia[blogs.nejm.org]
  • Typical clinical signs and symptoms of autosomal dominant ataxias (ADCA) include the following: Limb and truncal ataxia Hyperreflexia and spasticity (pyramidal signs) are commonly found in patients with SCA1 and SCA3 Cognitive impairment has been reported[centogene.com]
  • Clinical examination showed an ataxic gait, with appendicular dysmetria, and patellar and ankle hyperreflexia. Muscle tone and strength were preserved.[oatext.com]
  •  Clinical features: – Parkinsonism • Asymmetric, postural/action tremor, early gait problems, dopa responsive – Cerebellar • Gait and limb ataxia, nystagmus, dysarthria – Autonomic • Orthostatic hypotension, bladder dysfunction, impotence – Other • Hyperreflexia[slideshare.net]

Workup

HLA-DQ2
  • Up to 90% of patients with celiac disease are HLA DQ2, the remaining have DQ8 or DQ1. NCVs can be normal or minimally abnormal axonal neuropathy. Sural biopsy reveals axonopathy.[neuroweb.us]

Treatment

  • Oxford University Press, 18 Aug 2016 - Medical - 1488 pages The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments[books.google.com]
  • In some cases, there is no cure but treatment may help with symptoms. NIH: National Institute of Neurological Disorders and Stroke[medlineplus.gov]
  • CoQ10 is being tested on ALS patients and is considered to be potentially useful for treatment of Alzheimer's disease.[clinicaltrials.gov]
  • Treatment Treatment Options: No effective treatment is known for the neurological symptoms but physical therapy and mobility devices could be helpful in maintaining ambulation. Speech therapy could be useful for dysarthria.[disorders.eyes.arizona.edu]
  • The treatment for ataxia can vary depending on exact what type of ataxia you have.[nhsdirect.wales.nhs.uk]

Prognosis

  • Prognosis Prognosis is highly variable between the different types but improvement is unlikely.[patient.info]
  • Co Q10 supplementation (300 to 600 mg/day) for coenzyme Q10 deficiency . [6] Prognosis [ edit ] In most cases, between the age of 2 and 4 oculomotor signals are present. Between the age of 2 and 8, telangiectasias appears.[en.wikipedia.org]
  • 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]
  • The prognosis is usually bad with survival rates less than a few years after onset.[neuroweb.us]
  • Distinguishing genetically heritable syndromes from isolated cases of vermian/cerebellar hypoplasia is important for both prognosis and genetic counseling.[ajnr.org]

Etiology

  • All possible etiologies should be considered when the clinical course is not firmly established.[practicalneurology.com]
  • Etiology- IgA/IgG Anti-Gliadin Ab, Anti-endomysial Ab and Ab against Tissue Trans-glutaminase Rx-Gluten free diet, I.V.[slideshare.net]
  • Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA.[wjgnet.com]
  • Hereditary cerebellar ataxias are a clinically, pathologically, and etiologically heterogeneous group of disorders [ 1, 2 ].[e-jmd.org]
  • Moreover, increased intracellular Ca 2 , which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases.[emedicine.medscape.com]

Epidemiology

  • Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea.[e-jmd.org]
  • Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ].[patient.info]
  • The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al.[rarediseases.org]
  • Amano-Takeshige H, Oyama G, Kanai K, Miyagawa T, Mitsui J, Ugawa Y, Tsuji S, Hattori N Journal of the neurological sciences 384 126-128 2018年1月 [査読有り] Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by[researchmap.jp]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ].[wjgnet.com]
  • Central ataxia, Lower limb tremor, Psychosis, Dementia Damage to GABA-A receptor, Impaired Glucose metabolism,VitB1 deficiency MRI-Superior cerebellar and cerebral atrophy Alcohol abstinence,VitB1 replacement Pathophysiology MRI Treatment Toxins- Alcoholic[slideshare.net]

Prevention

  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • Abetalipoproteinemia treatment is received for its potential in preventing vitamin E deficiency . (1000 mg/day for infants and over 5,000 mg/day for adults.)[en.wikipedia.org]
  • The goal should be to maintain the highest possible level of autonomy, to cope with physical disability and to prevent secondary complications. With progression of the disease many patients will require walking aids and a wheelchair.[ataxia-study-group.net]
  • Prevention Genetic testing enables identification of the causative gene in 50-80% of cases of ADCA [ 15 ]. Pre-symptomatic testing is available but not always wanted. It is usually requested for family planning purposes.[patient.info]
  • Hip and knee muscle retraction prevents full leg extension.[oatext.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!