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

Vol. 59, No. 1-2, 2008

Free Abstract Article (Fulltext) Article (PDF 475 KB)

Original Paper

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
Masashiro Sugawara^a, Chizu Wada^a, Satoshi Okawa^a, Michio Kobayashi^a, Masato Sageshima^c, Tsuyoshi Imota^d, Itaru Toyoshima^b

^aDepartment of Neurology and
^bMedical Education Center, Akita University School of Medicine,
^cDivision of Clinical Pathology, Akita University Hospital, and
^dDivision of Neurology, Akita City Hospital, Akita, Japan

Address of Corresponding Author

Eur Neurol 2008;59:18-23 (DOI: 10.1159/000109256)

Key Words

Flocculus
Ocular motor apraxia
Vestibulo-ocular reflex
Aprataxin
Ataxia with ocular motor apraxia type 1
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia

Abstract

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.

Author Contacts

Masashiro Sugawara, MD
Department of Neurology, Akita University School of Medicine
Hondo 1-1-1
Akita 010-8543 (Japan)
Tel. +81 18 884 6104, Fax +81 18 836 2611, E-Mail masashir@gipc.akita-u.ac.jp

Article Information

Received: September 25, 2006
Accepted: March 22, 2007
Published online: October 4, 2007
Number of Print Pages : 6
Number of Figures : 3, Number of Tables : 1, Number of References : 17

This journal is part of the first subject package of the Karger

Journal Archive Collection

Information on packages (PDF)
Free sample issues

For non-native English speakers and international authors who would like assistance with their writing before submission, we suggest American Journal Experts for their scientific editing service.