GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

  title={GFAP mutations, age at onset, and clinical subtypes in Alexander disease.},
  author={Morgan J Prust and Junling Wang and Hidetomo Morizono and Albee Messing and Michael Brenner and Elizabeth Gordon and Thomas R Hartka and Alex Sokohl and Raphael Schiffmann and Heather Gordish-Dressman and Roger Albin and Hern{\'a}n M Amartino and Kate Brockman and Argirios Dinopoulos and Maria Teresa Dotti and Daniel Fain and Ram{\'o}n Garc{\'i}a Fern{\'a}ndez and Joaquim Ferreira and Jonathan P. Fleming and Deepak Gill and Martin A Griebel and Heidi A. Heilstedt and Paige Kaplan and Don W. Lewis and Masanori Nakagawa and Robert Pedersen and A Malla Reddy and Yukio Sawaishi and Michael Ulrich Schneider and Elliott Sherr and Yoshihisa Takiyama and Koichi Wakabayashi and J. Rafael Gorospe and Adeline Vanderver},
  volume={77 13},
OBJECTIVE To characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic protein (GFAP) mutations. METHODS We present 30 new cases of AxD and reviewed 185 previously reported cases. We conducted Wilcoxon rank sum tests to identify variables scaling with AAO, survival analysis to identify predictors of mortality, and χ(2… CONTINUE READING


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