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From the archives DOI: 10.1093/brain/awh314 Brain (2004), 127, 2382 On hereditary ataxy, with a series of twenty-one cases. By around presumed extensive degeneration of efferent motor M.D. Sanger Brown, Professor of Forensic Medicine and rather than afferent pathways. In keeping with the times, Hygiene, Rush Medical College, Chicago. Brain 1892: 15; he satisfied himself that galvanism improved the disabilities. 250–282. He concluded that this family differed from existing descrip- tions of hereditary ataxia (for example in Sir William Gowers’ Brown starts by lamenting the lack of guidance available Manual of Diseases of the Nervous System) in the older age at from the existing literature on what genuinely constitutes an onset, the exaggerated tendon reflexes and the optic atrophy. example of Friedrich’s ‘hereditary ataxia’. He was not much In a commentary on Sanger Brown’s paper, Dr Joseph helped by the comprehensive account and history of the dis- Ormerod found himself unable to accept that the descrip- order by Dr P. Ladame (Brain 1890; 12: 467–537). His start- tion justified extending the boundaries of definition for ing point is that in describing ‘slow and progressive ataxy of Freidreich’s hereditary ataxy: exaggerated not absent reflexes; the four limbs, usually attacking several children of the same the absence of spinal deformity and club foot; ptosis and optic family ... with no authentic cases of onset after the twentieth atrophy all served to separate the two conditions. The absence year’. Ladame had not provided a working set of diagnostic of pathological details was regrettable and a severe limitation. criteria for what may be observed in clinical practice. Sanger However, families described by Menzel (Archives fu¨r Brown provides an illustration of his pedigree showing Psychiatrie 1891; 22: 161 et seq) and Nonne (Archives fu¨r (despite the title of his paper) 24 affected individuals in Psychiatrie 1891; 22: 283 et seq) had provided pathological four generations. Males and females are equally affected. details of sibships that closely resembled Sanger Brown’s Inheritance tends to pass through the female line. The cases. Here, the striking feature was cerebellar and brain- proband—a Texan surveyor—presented at 28, although he stem atrophy with loss of large nerve fibres in the spinal probably had symptoms from the age of 14 years. Brown roots but intact long tracts: ‘possibly the want of a proper expresses admiration for the ‘high humanitarian spirit and nervous development is the primary and hereditary factor’. untiring energy’ with which case XVIII provided details of Professor Bernhardt of Berlin rubbed in the probability that his own and his relatives’ illnesses. Starting in the legs, his Sanger Brown’s suggestion of linking his pedigree to a form ataxy progressed to involve the arms, speech and then his of Freidreich’s disease was an error, for much the same swallowing. There was associated visual failure, nystagmus reasons as Ormerod. That said, he felt instinctively that and bilateral ptosis. Loss of balance as young adults, visual there were similarities between cases in which ‘ataxy failure and brisk reflexes characterized the phenotype of his plays the chief part ... another in which spastic elements three affected siblings. In time, other branches of the family predominate and a third where spinal atrophies and paralyses were described. Clearly these relatives had the same disorder. hold the field ... but all these morbid types and other familial Details of the youngest generation, living 2000 miles from nervous affections ... may be referred to faulty develop- Chicago, were made available through the help of Dr Norman ment’. Thus, the principles of the hereditary ataxias and Bridge in whose clinical acumen Sanger Brown evidently related disorders were laid out; a stereotyped but often dis- placed great faith. Because of the exaggerated tendon reflexes tinct clinical phenotype within families; distinct patterns of in all affected individuals, Sanger Brown preferred the inheritance that later were given mechanistic genetic explana- description ‘hereditary ataxic paraplegia’. Taken together, tions moving from the simple concept of dominance to more he felt justified in concluding that ‘hereditary ataxy may be complex features such as anticipation; the cooperation of traced through several—at least four—generations, increas- affected individuals for tracing and describing the nature ing in intensity as it descends, tending to occur earlier in life and extent of the affliction; and the requirement for patho- and advance more rapidly ... it begins most frequently logical characterization of these disorders. After Sanger between the ages of sixteen and thirty five .. . as early as Brown, the next major development was Gordon Holmes’s eleven and as late as forty-five ... inco-ordination of the papers of 1907, eventually culminating in the classical work voluntary muscles ... noticed first in the legs ... extends to of Anita Harding (1984). the arms, face, head and organs of speech ...’. Sanger Brown did not describe the pathology of this disorder Alastair Compston although he made some speculations, formulating the problem Cambridge Brain Vol. 127 No. 11 Guarantors of Brain 2004; all rights reserved http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Brain Oxford University Press

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Brain , Volume 127 (11) – Nov 1, 2004

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Oxford University Press
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© Published by Oxford University Press.
ISSN
0006-8950
eISSN
1460-2156
DOI
10.1093/brain/awh314
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Abstract

DOI: 10.1093/brain/awh314 Brain (2004), 127, 2382 On hereditary ataxy, with a series of twenty-one cases. By around presumed extensive degeneration of efferent motor M.D. Sanger Brown, Professor of Forensic Medicine and rather than afferent pathways. In keeping with the times, Hygiene, Rush Medical College, Chicago. Brain 1892: 15; he satisfied himself that galvanism improved the disabilities. 250–282. He concluded that this family differed from existing descrip- tions of hereditary ataxia (for example in Sir William Gowers’ Brown starts by lamenting the lack of guidance available Manual of Diseases of the Nervous System) in the older age at from the existing literature on what genuinely constitutes an onset, the exaggerated tendon reflexes and the optic atrophy. example of Friedrich’s ‘hereditary ataxia’. He was not much In a commentary on Sanger Brown’s paper, Dr Joseph helped by the comprehensive account and history of the dis- Ormerod found himself unable to accept that the descrip- order by Dr P. Ladame (Brain 1890; 12: 467–537). His start- tion justified extending the boundaries of definition for ing point is that in describing ‘slow and progressive ataxy of Freidreich’s hereditary ataxy: exaggerated not absent reflexes; the four limbs, usually attacking several children of the same the absence of spinal deformity and club foot; ptosis and optic family ... with no authentic cases of onset after the twentieth atrophy all served to separate the two conditions. The absence year’. Ladame had not provided a working set of diagnostic of pathological details was regrettable and a severe limitation. criteria for what may be observed in clinical practice. Sanger However, families described by Menzel (Archives fu¨r Brown provides an illustration of his pedigree showing Psychiatrie 1891; 22: 161 et seq) and Nonne (Archives fu¨r (despite the title of his paper) 24 affected individuals in Psychiatrie 1891; 22: 283 et seq) had provided pathological four generations. Males and females are equally affected. details of sibships that closely resembled Sanger Brown’s Inheritance tends to pass through the female line. The cases. Here, the striking feature was cerebellar and brain- proband—a Texan surveyor—presented at 28, although he stem atrophy with loss of large nerve fibres in the spinal probably had symptoms from the age of 14 years. Brown roots but intact long tracts: ‘possibly the want of a proper expresses admiration for the ‘high humanitarian spirit and nervous development is the primary and hereditary factor’. untiring energy’ with which case XVIII provided details of Professor Bernhardt of Berlin rubbed in the probability that his own and his relatives’ illnesses. Starting in the legs, his Sanger Brown’s suggestion of linking his pedigree to a form ataxy progressed to involve the arms, speech and then his of Freidreich’s disease was an error, for much the same swallowing. There was associated visual failure, nystagmus reasons as Ormerod. That said, he felt instinctively that and bilateral ptosis. Loss of balance as young adults, visual there were similarities between cases in which ‘ataxy failure and brisk reflexes characterized the phenotype of his plays the chief part ... another in which spastic elements three affected siblings. In time, other branches of the family predominate and a third where spinal atrophies and paralyses were described. Clearly these relatives had the same disorder. hold the field ... but all these morbid types and other familial Details of the youngest generation, living 2000 miles from nervous affections ... may be referred to faulty develop- Chicago, were made available through the help of Dr Norman ment’. Thus, the principles of the hereditary ataxias and Bridge in whose clinical acumen Sanger Brown evidently related disorders were laid out; a stereotyped but often dis- placed great faith. Because of the exaggerated tendon reflexes tinct clinical phenotype within families; distinct patterns of in all affected individuals, Sanger Brown preferred the inheritance that later were given mechanistic genetic explana- description ‘hereditary ataxic paraplegia’. Taken together, tions moving from the simple concept of dominance to more he felt justified in concluding that ‘hereditary ataxy may be complex features such as anticipation; the cooperation of traced through several—at least four—generations, increas- affected individuals for tracing and describing the nature ing in intensity as it descends, tending to occur earlier in life and extent of the affliction; and the requirement for patho- and advance more rapidly ... it begins most frequently logical characterization of these disorders. After Sanger between the ages of sixteen and thirty five .. . as early as Brown, the next major development was Gordon Holmes’s eleven and as late as forty-five ... inco-ordination of the papers of 1907, eventually culminating in the classical work voluntary muscles ... noticed first in the legs ... extends to of Anita Harding (1984). the arms, face, head and organs of speech ...’. Sanger Brown did not describe the pathology of this disorder Alastair Compston although he made some speculations, formulating the problem Cambridge Brain Vol. 127 No. 11 Guarantors of Brain 2004; all rights reserved

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BrainOxford University Press

Published: Nov 1, 2004

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