Harding ataxia

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Harding ataxia
Other namesEarly onset cerebellar ataxia with retained reflexes (EOCARR)
Autorecessive.svg
Harding ataxia has an autosomal recessive pattern of inheritance.
Specialty Neurology

Harding ataxia is an autosomal recessive cerebellar ataxia originally described by Harding in 1981. [1] This form of cerebellar ataxia is similar to Friedreich ataxia including that it results in poor reflexes and balance, but differs in several ways, including the absence of diabetes mellitus, optic atrophy, cardiomyopathy, skeletal abnormalities, and the fact that tendon reflexes in the arms and knees remain intact. [2] This form of ataxia is characterized by onset in the first 20 years, and is less severe than Friedreich ataxia. Additional cases were diagnosed in 1989, [3] 1990, [4] 1991, [5] and 1998. [6]

Contents

Cases

40 cases were diagnosed in northern Italy between 1940 and 1990. The gene frequency for this autosomal recessive condition was estimated at 1 in 218. [7] In 1989, 16 cases on EOCA were diagnosed in children with a mean onset age of 7.1 [3] In 1990, 20 patients affected by EOCA were studied. It was found that the ataxia of this study's participants affected the pyramidal tracts and peripheral nerves. [4]

See also

References

  1. ↑ Harding, A. E. (1981). "Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia". Journal of Neurology, Neurosurgery, and Psychiatry. 44 (6): 503–508. doi:10.1136/jnnp.44.6.503. PMC   491030 . PMID   7276963.
  2. ↑ Brusse, E.; Maat-Kievit, J.A.; van Swieten, J.C. (January 2007). "Diagnosis and management of early- and late-onset cerebellar ataxia". Clinical Genetics. 71 (1): 12–24. doi:10.1111/j.1399-0004.2006.00722.x. PMID   17204042. S2CID   25779423.
  3. 1 2 Ozeren, A.; Arac, N.; ulku, A. (December 1989). "Early-onset cerebellar ataxia with retained tendon reflexes". Acta Neurologica Scandinavica. 80 (6): 593–597. doi: 10.1111/j.1600-0404.1989.tb03933.x . PMID   2618587. S2CID   73099143.
  4. 1 2 Filla et at. (1990). "Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes". Journal of Neurology, Neurosurgery, and Psychiatry. 53 (8): 667–670. doi:10.1136/jnnp.53.8.667. PMC   488168 . PMID   2213043.
  5. ↑ Klockgether, T.; Petersen, D.; Grodd, W.; Dichgans, J. (1991). "Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia". Brain. 114 (4): 1559–73. doi:10.1093/brain/114.4.1559. PMID   1884166.
  6. ↑ Mielke; et al. (July 1998). "Early-onset cerebellar ataxia (EOCA) with retained reflexes: reduced cerebellar benzodiazepine-receptor binding, progressive metabolic and cognitive impairment". Movement Disorders. 13 (4): 739–745. doi:10.1002/mds.870130423. PMID   9686785. S2CID   9911093.
  7. ↑ Chio; et al. (1993). "Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population". Clinical Genetics. 43 (4): 207–211. doi:10.1111/j.1399-0004.1993.tb04450.x. PMID   8330454. S2CID   30401940.
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