Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
We genetically screened patients with ataxia with ocular motor apraxia type 1 (AOA1)/early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), with a Japanese variant form of Friedreich's ataxia. Three patients were found to have a homozygous insertion mutation of the aprataxin gene (689insT). An elder sister of a patient in this series died of cerebral hemorrhage at the age of 45, and underwent autopsy. In her cerebellar cortex, the mean density of Purkinje cells in the flocculus had predominantly decreased to 6.7% of normal controls, whereas the Purkinje cells in the other areas of the cerebellar hemisphere had decreased to 78.2%. This suggests that the cerebellar flocculus is the primary affected lesion in AOA1/EAOH, which should be associated with ocular motor apraxia.
Sugawara
Masashiro
M
Department of Neurology, Akita University School of Medicine, Akita, Japan. masashir@gipc.akita-u.ac.jp
Wada
Chizu
C
Okawa
Satoshi
S
Kobayashi
Michio
M
Sageshima
Masato
M
Imota
Tsuyoshi
T
Toyoshima
Itaru
I
D000328:Adult; D001072:Apraxias / Q000150:complications / Q000235:genetics / Q000473:pathology*; D016923:Cell Death / Q000502:physiology; D002531:Cerebellum / Q000473:pathology*; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D034141:Hypoalbuminemia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D015835:Ocular Motility Disorders / Q000150:complications / Q000235:genetics / Q000473:pathology*; D011689:Purkinje Cells / Q000473:pathology*; D013194:Staining and Labeling / Q000379:methods; D015898:Tomography Scanners, X-Ray Computed
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins