Table 1:

Clinical features in 11 patients with AOAD

Pt/Age/SexDisease Duration (y)Spastic ParaparesisAtaxiaDysphagiaDysarthria DysphoniaPalatal MyoclonusOthers
1/26/M7+±++Ny, diplopia, sphincter d.
2/36/F2+++sphincter d. (f)
3/26/M13++++Ny, ptosis, sphincter d., dysautonomia, scoliosis
4/39/F5±+++Sphincter d., diplopia
6/43/F3 months+++Ny, ptosis
 7/61/M4±±++Ny, shoulder girdle wasting & weakness (f)
8/58/M4++Ny, sphincter d.
11/45/M2±±+++Ny, ptosis, sphincter d. (f)
  • Note:—AOAD indicates adult-onset Alexander disease; Ny, nystagmus; sphincter d., sphincter disturbances; +, moderate to severe; ±, mild; (f), familial case based on clinical, MR imaging, or genetic findings in relatives.