Mother With Amyotrophic Lateral Sclerosis and Daughter With Creutzfeldt-Jakob Disease | Amyotrophic Lateral Sclerosis | JAMA Neurology | JAMA Network
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December 1999

Mother With Amyotrophic Lateral Sclerosis and Daughter With Creutzfeldt-Jakob Disease

Author Affiliations

From the Departments of Neurology (Drs Worrall, Rowland, and Leung and Ms Del Bene) and Pathology (Dr Chin), Columbia University College of Physicians & Surgeons, New York, NY. Dr Worrall is now with the Department of Neurology, University of Virginia Health System, Charlottesville.

Arch Neurol. 1999;56(12):1502-1504. doi:10.1001/archneur.56.12.1502

Objective  To describe a mother who had autopsy-proved amyotrophic lateral sclerosis and her daughter who had clinically diagnosed Creutzfeldt-Jakob disease.

Design  Case reports with molecular genetic analyses.

Setting  A tertiary care center.

Patients  The mother had progressive upper and lower motor neuron symptoms and signs starting at the age of 54 years. Electrophysiological testing supported the diagnosis of amyotrophic lateral sclerosis. Autopsy results confirmed the diagnosis. Her daughter had received injections of human growth hormone prepared from pooled human pituitary glands as a child. At the age of 31 years, she experienced the onset of gait ataxia and dysarthria. Cerebrospinal fluid showed the 14-3-3 protein. Cognitive difficulties ensued. She progressed to a nearly akinetic and mute state. She had overt visible fasciculations and muscle atrophy in the legs.

Main Outcome Measures and Results  Neither patient carried a mutation in the prion protein gene. Both were homozygous for methionine at the polymorphic codon 129. Neither patient carried a deletion of the 5 exons of the superoxide dismutase 1 gene.

Conclusions  It is uncertain whether the 2 cases occurred in the same family by chance or whether the patients shared genetic risk factors for the 2 diseases. The possibility that homozygosity at codon 129 is a risk factor for amyotrophic lateral sclerosis is being tested in a case-control study.