Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem cag repeat in androgen receptor gene
Manabu Doyu MD
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi, Japan
Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan
Search for more papers by this authorCorresponding Author
Dr. Gen Sobue MD
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi, Japan
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi 480-11, JapanSearch for more papers by this authorEiichiro Mukai MD
Department of Neurology, National Nagoya Hospital, Nagoya, Japan
Search for more papers by this authorTeruhiko Kachi MD
Department of Neurology, National Chubu Hospital, Obu, Japan
Search for more papers by this authorTakeshi Yasuda MD
Department of Neurology, Nagoya Daini Red Cross Hospital, Nagoya, Japan
Search for more papers by this authorTerunori Mitsuma MD
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi, Japan
Search for more papers by this authorAkira Takahashi MD
Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan
Search for more papers by this authorManabu Doyu MD
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi, Japan
Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan
Search for more papers by this authorCorresponding Author
Dr. Gen Sobue MD
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi, Japan
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi 480-11, JapanSearch for more papers by this authorEiichiro Mukai MD
Department of Neurology, National Nagoya Hospital, Nagoya, Japan
Search for more papers by this authorTeruhiko Kachi MD
Department of Neurology, National Chubu Hospital, Obu, Japan
Search for more papers by this authorTakeshi Yasuda MD
Department of Neurology, Nagoya Daini Red Cross Hospital, Nagoya, Japan
Search for more papers by this authorTerunori Mitsuma MD
Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Nagakute, Aichi, Japan
Search for more papers by this authorAkira Takahashi MD
Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan
Search for more papers by this authorAbstract
The genetic mutation of X-linked recessive bulbospinal neuronopathy is amplification of a polymorphic tandem CAG repeat in the androgen receptor gene. We studied this CAG repeat in 26 Japanese patients from 21 families with X-linked recessive bulbospinal neuronopathy. The number of CAG repeats was significantly correlated with the age at onset of limb muscular weakness (r = −0.596, p < 0.001) and age-adjusted scored disability (r = 0.446, p < 0.03). The length of the CAG repeat therefore seems to be a determinant factor of clinical severity.
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