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A Reappraisal Based on the Last Autopsy Case From la Salpêtrière Hospital

Toshiki Uchihara, MD, PhD; Charles Duyckaerts, MD, PhD; Kiyoshi Iwabuchi, MD, PhD; Makoto Iwata, MD, PhD; Saburo Yagishita, MD, PhD; Jean-Jacques Hauw, MD, PhD

Arch Neurol. 2004;61:784-790.

Nosological placement of l'hérédo-ataxie cérébelleuse de Pierre Marie (HAC) has never been established even after several autopsy cases from the original Haudebourg family had been reported. To reappraise the clinical and pathological features of HAC in the current framework of hereditary ataxias, we screened the autopsy records of la Salpêtrière hospital and identified a patient with a diagnosis of HAC who underwent an autopsy in 1943. Clinical features included heredity compatible with autosomal dominant inheritance, spasticity, increased tendon reflexes, mask-like face, visual impairment, nuclear ophthalmoparesis, and exophthalmos in addition to progressive ataxia. Pathological lesions included the spinal cord (spinocerebellar tracts, anterolateral fascicles, and posterior column), cerebellar dentate nucleus, pontine nucleus, pallidum, motor neurons including the oculomotor nucleus, and substantia nigra. The cerebellar cortex and inferior olives were preserved. These clinical and pathological features, similar to those described in patients from the Haudebourg family, a core prototype of HAC, are indistinguishable from those of Machado-Joseph disease. It would then be possible to conclude that some of the patients historically considered to have HAC would today be classified as having Machado-Joseph disease.

From the Laboratoire Raymond Escourolle, Service de Neuropathologie, Association Claude Bernard, Groupe Hospitalier, Pitié-Salpêtrière, Paris, France (Drs Uchihara, Duyckaerts, and Hauw); the Department of Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan (Dr Uchihara); the Departments of Neurology and Psychiatry (Dr Iwabuchi) and Pathology (Dr Yagishita), Kanagawa Rehabilitation Center, Kanagawa, Japan; and the Department of Neurology, Tokyo Women's Medical University, Tokyo (Dr Iwata).