In Context
Focal point Friedreich’s footprint Nikolaus Friedreich (1825–1882) was a German neurologist, who is probably best remembered for giving his name to the rare progressive autosomal neurodegenerative disease Friedreich’s ataxia, but he was also interested in several other branches of medicine. He was instrumental in the establishment of clinicopathological correlations for brain tumours, muscular dystrophies, and spinal ataxias.1 Friedreich studied and practiced medicine in his native Wüzberg, following in the footsteps of his father and grandfather, who had been professors of medicine; Nikolaus’s grandfather, Nikolaus Anton Friedreich (1761–1836), described a form of idiopathic facial paralysis that was later to be known as Bell’s palsy.2 Nikolaus junior was an acolyte of such doyens of science as the embryologist Rudolf Albert von Kölliker and the medical and social polymath, and so-called father of modern pathology, Rudolf Virchow.1 Friedreich first described his eponymous ataxia in a series of papers, published between 1863 and 1877, on nine members of three families who developed ataxia, dysarthria, sensory loss, muscle weakness, scoliosis, foot deformity, and cardiac symptoms at onset of puberty.3 Following his description of the ataxia, several sporadic case studies were reported over the years, mostly in siblings. But these diagnoses still remained far from definitive, with the reporting physicians in some doubt as to whether these were true cases of Friedriech’s ataxia.4 In fact, it would take until the 1970s and 1980s before a definitive and rigorous diagnostic criteria for Friedreich’s ataxia were established, and until 1996 before the causative GAA triplet expansion in the gene that encodes frataxin (FXN) was identified.5 We can only hope that the time to a treatment or cure will not be so long.
Steven Goodrick 1 2 3 4 5
Nikolaus Friedreich. Whonameit? http://www.whonamedit.com/ doctor.cfm/1390.html (accessed Dec 18, 2014). Bell’s paralysis. Whonameit? http://www.whonamedit.com/synd. cfm/2385.html (accessed Dec 18, 2014). Köppen AH. Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord. J Neurochem 2013; 126: 4–10. Clarke JM. An account of three cases of Friedreich’s disease, or hereditary ataxia. Lancet 1889; 133: 570–71. Pandolfo M. Friedreich ataxia. In: Genetics of movement disorders. USA: Elsevier 2003: 165–78.
www.thelancet.com/neurology Vol 14 February 2015
Lifeline Nadine Attal is an associate professor of neurology at University Versailles Saint-Quentin, Paris, France. She received her MD from the Pitié-Salpêtrière Hospital, and her PhD in neurosciences from the Paris VI University, both in Paris. She specialises in neurology and pain, with a focus on neuropathic pain. She is a member of the U987 INSERM Research Unit on pain (directed by Didier Bouhassira), is currently in charge of the clinical pain centre in Ambroise Pare Hospital, Boulogne, France, and serves on the Special Interest Group on Neuropathic Pain (NeuPSIG) Management Committee.
See Articles page 162
What has been the greatest achievement of your career? One of the greatest achievements of my career has been to present a plenary session at the recent 2014 World Congress on Pain in Buenos Aires, Argentina. Which research paper has had the most effect on your work, and why? During my residency I read a review on pain modulation systems—published in La Revue du Praticien—which summarised the research done by the French researchers Jean Marie Besson, Daniel Le Bars, and Jean Claude Willer; this review had a major influence on my decision to become a pain specialist. If you had not entered your current profession, what would you have liked to do? Something to do with foreign languages; I was really good at languages at school. Who was your most influential teacher, and why? One of my most influential teachers when I was at Salpêtrière Hospital was Yves Agid; he is both a great clinician and a great researcher, and he had an impact on my choice of research. What would be your advice to a newly qualified doctor? Try and combine clinical and research activities, because they enrich and complement each other. What apart from your family is the passion of your life? To travel: I want to visit everywhere in the world I possibly can. What is your favourite film, and why? It’s a Wonderful Life by Frank Capra, because it emphasises the role of chance in human life. How would you improve the public’s understanding of research? I would advocate brief daily news flashes on scientific topics and general web access to plenaries from international scientific meetings. What was the most memorable comment you ever received from a referee? Since I always forget the negative comments, the most memorable comments are all the highly positive ones.
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Focal point Friedreich’s footprint Nikolaus Friedreich (1825–1882) was a German neurologist, who is probably best remembered for giving his name to the rare progressive autosomal neurodegenerative disease Friedreich’s ataxia, but he was also interested in several other branches of medicine. He was instrumental in the establishment of clinicopathological correlations for brain tumours, muscular dystrophies, and spinal ataxias.1 Friedreich studied and practiced medicine in his native Wüzberg, following in the footsteps of his father and grandfather, who had been professors of medicine; Nikolaus’s grandfather, Nikolaus Anton Friedreich (1761–1836), described a form of idiopathic facial paralysis that was later to be known as Bell’s palsy.2 Nikolaus junior was an acolyte of such doyens of science as the embryologist Rudolf Albert von Kölliker and the medical and social polymath, and so-called father of modern pathology, Rudolf Virchow.1 Friedreich first described his eponymous ataxia in a series of papers, published between 1863 and 1877, on nine members of three families who developed ataxia, dysarthria, sensory loss, muscle weakness, scoliosis, foot deformity, and cardiac symptoms at onset of puberty.3 Following his description of the ataxia, several sporadic case studies were reported over the years, mostly in siblings. But these diagnoses still remained far from definitive, with the reporting physicians in some doubt as to whether these were true cases of Friedriech’s ataxia.4 In fact, it would take until the 1970s and 1980s before a definitive and rigorous diagnostic criteria for Friedreich’s ataxia were established, and until 1996 before the causative GAA triplet expansion in the gene that encodes frataxin (FXN) was identified.5 We can only hope that the time to a treatment or cure will not be so long.
Steven Goodrick 1 2 3 4 5
Nikolaus Friedreich. Whonameit? http://www.whonamedit.com/ doctor.cfm/1390.html (accessed Dec 18, 2014). Bell’s paralysis. Whonameit? http://www.whonamedit.com/synd. cfm/2385.html (accessed Dec 18, 2014). Köppen AH. Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord. J Neurochem 2013; 126: 4–10. Clarke JM. An account of three cases of Friedreich’s disease, or hereditary ataxia. Lancet 1889; 133: 570–71. Pandolfo M. Friedreich ataxia. In: Genetics of movement disorders. USA: Elsevier 2003: 165–78.
www.thelancet.com/neurology Vol 14 February 2015
Lifeline Nadine Attal is an associate professor of neurology at University Versailles Saint-Quentin, Paris, France. She received her MD from the Pitié-Salpêtrière Hospital, and her PhD in neurosciences from the Paris VI University, both in Paris. She specialises in neurology and pain, with a focus on neuropathic pain. She is a member of the U987 INSERM Research Unit on pain (directed by Didier Bouhassira), is currently in charge of the clinical pain centre in Ambroise Pare Hospital, Boulogne, France, and serves on the Special Interest Group on Neuropathic Pain (NeuPSIG) Management Committee.
See Articles page 162
What has been the greatest achievement of your career? One of the greatest achievements of my career has been to present a plenary session at the recent 2014 World Congress on Pain in Buenos Aires, Argentina. Which research paper has had the most effect on your work, and why? During my residency I read a review on pain modulation systems—published in La Revue du Praticien—which summarised the research done by the French researchers Jean Marie Besson, Daniel Le Bars, and Jean Claude Willer; this review had a major influence on my decision to become a pain specialist. If you had not entered your current profession, what would you have liked to do? Something to do with foreign languages; I was really good at languages at school. Who was your most influential teacher, and why? One of my most influential teachers when I was at Salpêtrière Hospital was Yves Agid; he is both a great clinician and a great researcher, and he had an impact on my choice of research. What would be your advice to a newly qualified doctor? Try and combine clinical and research activities, because they enrich and complement each other. What apart from your family is the passion of your life? To travel: I want to visit everywhere in the world I possibly can. What is your favourite film, and why? It’s a Wonderful Life by Frank Capra, because it emphasises the role of chance in human life. How would you improve the public’s understanding of research? I would advocate brief daily news flashes on scientific topics and general web access to plenaries from international scientific meetings. What was the most memorable comment you ever received from a referee? Since I always forget the negative comments, the most memorable comments are all the highly positive ones.
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