Friedreich's ataxia historical perspective: Difference between revisions

Jump to navigation Jump to search
Line 6: Line 6:
==Historical Perspective==
==Historical Perspective==
===Discovery===
===Discovery===
*Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German [[pathologist]] and [[neurologist]], in 1863.<ref name="pmid3117664">{{cite journal |vauthors=Nakagawa R, Iida T, Takenaka S, Fukamachi K, Mori A, Takahashi K, Asahi M |title=[PCBs in human blood and adipose tissue: levels and similarities on gas chromatograms] |language=Japanese |journal=Fukuoka Igaku Zasshi |volume=78 |issue=5 |pages=309–13 |date=May 1987 |pmid=3117664 |doi= |url=}}</ref>
*Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German [[pathologist]] and [[neurologist]], in 1863.<ref name="pmid23587934">{{cite journal |vauthors=Richardson TE, Kelly HN, Yu AE, Simpkins JW |title=Therapeutic strategies in Friedreich's ataxia |journal=Brain Res. |volume=1514 |issue= |pages=91–7 |date=June 2013 |pmid=23587934 |pmc=4461031 |doi=10.1016/j.brainres.2013.04.005 |url=}}</ref>
 
*The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich.<ref name="pmid23587934">{{cite journal |vauthors=Richardson TE, Kelly HN, Yu AE, Simpkins JW |title=Therapeutic strategies in Friedreich's ataxia |journal=Brain Res. |volume=1514 |issue= |pages=91–7 |date=June 2013 |pmid=23587934 |pmc=4461031 |doi=10.1016/j.brainres.2013.04.005 |url=}}</ref>
*The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich.<ref name="pmid3117664">{{cite journal |vauthors=Nakagawa R, Iida T, Takenaka S, Fukamachi K, Mori A, Takahashi K, Asahi M |title=[PCBs in human blood and adipose tissue: levels and similarities on gas chromatograms] |language=Japanese |journal=Fukuoka Igaku Zasshi |volume=78 |issue=5 |pages=309–13 |date=May 1987 |pmid=3117664 |doi= |url=}}</ref>
*In 1996, the association between a GAA repeat expansion on [[chromosome 9]] and the development of Friedreich's ataxia was discovered for the first time.<ref name="pmid8596916">{{cite journal |vauthors=Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M |title=Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion |journal=Science |volume=271 |issue=5254 |pages=1423–7 |date=March 1996 |pmid=8596916 |doi= |url=}}</ref>
*In 1996, the association between a GAA repeat expansion on [[chromosome 9]] and the development of Friedreich's ataxia was discovered for the first time.<ref name="pmid8596916">{{cite journal |vauthors=Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M |title=Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion |journal=Science |volume=271 |issue=5254 |pages=1423–7 |date=March 1996 |pmid=8596916 |doi= |url=}}</ref>


===Famous Cases===
===Famous Cases===
*Geraint Williams: He is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike.
*Geraint Williams: He is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike.
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Revision as of 15:27, 23 April 2019

Friedreich's ataxia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Friedreich's ataxia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Friedreich's ataxia historical perspective On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Friedreich's ataxia historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Friedreich's ataxia historical perspective

CDC on Friedreich's ataxia historical perspective

Friedreich's ataxia historical perspective in the news

Blogs on Friedreich's ataxia historical perspective

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Friedreich's ataxia historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[2]]

Overview

Historical Perspective

Discovery

  • Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German pathologist and neurologist, in 1863.[1]
  • The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich.[1]
  • In 1996, the association between a GAA repeat expansion on chromosome 9 and the development of Friedreich's ataxia was discovered for the first time.[2]

Famous Cases

  • Geraint Williams: He is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike.

References

  1. 1.0 1.1 Richardson TE, Kelly HN, Yu AE, Simpkins JW (June 2013). "Therapeutic strategies in Friedreich's ataxia". Brain Res. 1514: 91–7. doi:10.1016/j.brainres.2013.04.005. PMC 4461031. PMID 23587934.
  2. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (March 1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion". Science. 271 (5254): 1423–7. PMID 8596916.