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History of Neurology: Seminal Citation |

Bulbospinal Muscular Atrophy Kennedy’s Disease

Michael Sinnreich, MD, PhD; Christopher Jon Klein, MD, MSc
Arch Neurol. 2004;61(8):1324-1326. doi:10.1001/archneur.61.8.1324.
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X-linked bulbar and spinal muscular atrophy was comprehensively described by William R. Kennedy, and later the syndrome carried his name. It was the first triplet-repeat disease to be discovered. Recent transgenic experiments have shed some light on the underlying pathogenesis. This article considers the historical background of these discoveries and focuses on direct quotations of seminal contributions.

Kurland  LT Epidemiologic investigations of amyotrophic lateral sclerosis: III. a genetic interpretation of incidence and geographic distribution. Proc Staff Meet Mayo Clin 1957;32449- 462
Kurland  LTMulder  DW Epidemiologic investigations of amyotrophic lateral sclerosis, I: preliminary report on geographic distribution, with special reference to the Mariana Islands, including clinical and pathologic observations. Neurology 1954;4355- 375
PubMed Link to Article[[XSLOpenURL/10.1212/WNL.4.5.355]]
Magee  KR Familial progressive bulbar spinal muscular atrophy. Neurology 1960;10295- 305
PubMed Link to Article[[XSLOpenURL/10.1212/WNL.10.3.295]]
Gross  M Proximal spinal muscular atrophy. J Neurol Neurosurg Psychiatry 1966;2929- 34
PubMed Link to Article[[XSLOpenURL/10.1136/jnnp.29.1.29]]
Tsukagoshi  HNakanishi  TKondo  KTsubaki  T Hereditary proximal neurogenic muscular atrophy in adult. Arch Neurol 1965;12597- 603
PubMed Link to Article[[XSLOpenURL/10.1001/archneur.1965.00460300045005]]
Smith  JBPatel  A The Wohlfart-Kugelberg-Welander disease: review of the literature and report of a case. Neurology 1965;15469- 473
PubMed Link to Article[[XSLOpenURL/10.1212/WNL.15.5.469]]
Kennedy  WRAlter  MSung  JH Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 1968;18671- 680
PubMed Link to Article[[XSLOpenURL/10.1212/WNL.18.7.671]]
Kennedy  WR Kennedy disease: a historical note. J Clin Neuromuscul Disord 2000;23- 5
Link to Article[[XSLOpenURL/10.1097/00131402-200009000-00002]]
Schoenen  JDelwaide  PJLegros  JJFranchimont  P Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease): clinical and neuroendocrinologic observations [in French]. J Neurol Sci 1979;41343- 357
PubMed Link to Article[[XSLOpenURL/10.1016/0022-510X(79)90094-7]]
Harding  AEThomas  PKBaraitser  MBradbury  PGMorgan-Hughes  JAPonsford  JR X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 1982;451012- 1019
PubMed Link to Article[[XSLOpenURL/10.1136/jnnp.45.11.1012]]
Ferrante  MAWilbourn  AJ The characteristic electrodiagnostic features of Kennedy's disease. Muscle Nerve 1997;20323- 329
PubMed Link to Article[[XSLOpenURL/10.1002/(ISSN)1097-4598]]
La Spada  ARWilson  EMLubahn  DBHarding  AEFischbeck  KH Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;35277- 79
PubMed Link to Article[[XSLOpenURL/10.1038/352077a0]]
Shimada  NSobue  GDoyu  M  et al.  X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene. Muscle Nerve 1995;181378- 1384
PubMed Link to Article[[XSLOpenURL/10.1002/(ISSN)1097-4598]]
Katsuno  MAdachi  HKume  A  et al.  Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 2002;35843- 854
PubMed Link to Article[[XSLOpenURL/10.1016/S0896-6273(02)00834-6]]
Takeyama  KIto  SYamamoto  A  et al.  Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 2002;35855- 864
PubMed Link to Article[[XSLOpenURL/10.1016/S0896-6273(02)00875-9]]

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