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May 25, 2004; 62 (10) Clinical/Scientific Notes

Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)

Robert H. Baloh, Joanna C. Jen, Gilbert Kim, Robert W. Baloh
First published May 24, 2004, DOI: https://doi.org/10.1212/01.WNL.0000125287.98456.23
Robert H. Baloh
MD PhD
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Joanna C. Jen
MD PhD
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Gilbert Kim
BS
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Robert W. Baloh
MD
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Citation
Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)
Robert H. Baloh, Joanna C. Jen, Gilbert Kim, Robert W. Baloh
Neurology May 2004, 62 (10) 1905-1906; DOI: 10.1212/01.WNL.0000125287.98456.23

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Common causes of chronic cough include infection, allergy, esophageal reflux, and treatment with ace inhibitors. Primary neurologic causes are rarely considered. Five patients were reported recently with chronic cough associated with Holmes-Adie syndrome (tonic pupils and areflexia).1 We describe a large family in whom chronic cough was associated with a Thr124 Met mutation in the MPZ gene.

Case report.

Proband.

A man aged 38 years had severe recurrent coughing spasms dating back to his late teens. These episodes could occur spontaneously or be triggered by noxious odors such as pepper or chlorine. Coughing spells were also induced when cleaning his ears with a cotton swab. The episodes would typically last for 20 to 30 minutes and end in retching and vomiting. He described these episodes as the “family curse” because several other family members had identical coughing spasms.

His mother observed his enlarged pupils as an infant, even in bright lights. In the fifth grade, he began regularly using over-the counter antacid medication for heartburn. In his mid-20s, …

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