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