Oculomotor and vestibular anomalies in Pelizaeus-Merzbacher disease: a study on a kindred with 2 affected and 3 normal males, 3 obligate and 8 possible carriers.
Two males suffering from Pelizaeus-Merzbacher disease were examined, one at the age of 1 year 4 months and at the age of 7 years, and the other at the age of 7 years 8 months. The former had spontaneous vertical pendular nystagmus. He also showed horizontal "micronystagmus", present only at the age of 1 year, which might be similar to "voluntary nystagmus". Both males had jerky bilateral gaze-evoked nystagmus, defective smooth pursuit and optokinetic responses and a hyporeactive vestibulo-ocular reflex (VOR). All three obligate carriers exhibited typical VOR disinhibition in the two horizontal nystagmus directions, which may be a distinctive feature. This feature was also found in one of the 7 possible carriers examined and was not observed in the 3 non-affected males, who had normal oculomotor responses.
Huygen
P L
PL
Department of Otolaryngology, University Hospital, Nijmegen, The Netherlands.
Verhagen
W I
WI
Renier
W O
WO
D000328:Adult; D000368:Aged; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure*; D017120:Nystagmus, Optokinetic; D009760:Nystagmus, Physiologic; D009801:Oculomotor Muscles / Q000503:physiopathology*; D011698:Pursuit, Smooth; D012027:Reflex, Vestibulo-Ocular; D012438:Saccades; D014722:Vestibule, Labyrinth / Q000503:physiopathology*