Amyotrophic lateral sclerosis due to a SOD1 mutation and X-linked recessive bulbospinal neuronopathy in a single family

  • Yi-Min Sun
  • Yi Dong
  • Jia-Hong Lu
  • Jian-Jun Wu
  • Yan ChenEmail author
Letter to the Editor


Both amyotrophic lateral sclerosis (ALS) and X-linked recessive bulbospinal neuronopathy (Kennedy disease, KD) are related motor neuron degenerations characterized by progressive weakness, skeletal muscle wasting, dysarthria, and dysphagia [1]. However, ALS is fatal due to progressive weakness of respiratory muscles, while KD progresses more slowly. KD is caused by a mutation in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner. Female carriers often display similar but more limited clinical symptoms. Here, we report one Chinese family containing both an ALS patient and a KD patient. All participants signed the informed consents and the study was approved by the Ethics Committee at Huashan Hospital.

Case report

The proband (Fig. 1, III:2) was a 68-year-old female patient suffering from progressive weakness in both upper and lower extremities for 2 years. She complained of difficulty in walking and “clumsy hands” along with muscle cramps and...


Amyotrophic lateral sclerosis Kennedy disease SOD1 AR Gene 



This work was supported by Grants (81701244) from the National Natural Science Foundation of China to Dr. Yi Dong.

Compliance with ethical standards

Conflict of interest

These authors reported no conflict of interests.

Ethical approval

All procedures performed in studies involving human participants were conducted in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Supplementary material

13760_2019_1124_MOESM1_ESM.docx (16 kb)
Supplementary material 1 (DOCX 17 KB)


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Copyright information

© Belgian Neurological Society 2019

Authors and Affiliations

  1. 1.Department of Neurology, Institute of NeurologyHuashan HospitalShanghaiChina

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