Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family
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LETTER TO THE EDITOR
Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family Fei Mao1 · Mengxin Bao2 · Youfei Fan3 · Meijia Zhu1 · Xiuhua Li1 Received: 20 July 2019 / Accepted: 21 January 2020 © Belgian Neurological Society 2020
Introduction Hereditary spastic paraplegia 7 (SPG7) is one of the rare subtypes of autosomal recessive hereditary spastic paraplegia, which has heterogeneous phenotypes, varying from spastic paraplegia to ataxia [1]. SPG7 is the causative gene, which encodes PARAPLEGIN, a mitochondrial metalloprotease localized at the inner mitochondrial membrane [2]. Here we report a Chinese SPG7 family (Fig. 1a) with a novel SPG7 homozygous mutation, in which the patients presented with progressive spasticity, weakness of lower extremities, and ataxia.
Case report A family of Han nationality from Shandong province in the east of China was carefully analyzed. The proband (patient II-2) was a 24-year-old man; he was admitted to our hospital with stiffness and weakness of his lower limbs. Since 19 years, he had increasing difficulty in walking and balance. The symptoms become more severe from 1 year ago and he
Fei Mao and Mengxin Bao contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s13760-020-01286-6) contains supplementary material, which is available to authorized users. * Xiuhua Li [email protected] 1
Department of Neurology, The First Affiliated Hospital of Shandong First Medical University, Jinan 250014, People’s Republic of China
2
Department of Neurology, Liaocheng People’s Hospital, Liaocheng 252000, People’s Republic of China
3
Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, People’s Republic of China
tumbled frequently (video in Supplementary material). He also had mild dysarthria and cognition impairment. Neurological examination showed symmetric spasticity of the legs with hyperreflexia, bilateral Babinski sign, scissors gait, and positive Romberg’s sign. Brain MRI revealed mild cerebellar atrophy (Fig. 1b, c). Laboratory tests showed elevated CK level (407.00 U/L) and EMG showed mild myopathic features of upper limbs. Patient II-1 was 28 years old and was the proband’s elder brother. From the age of 5, he had suffered the same symptoms, but more severely. He could not walk independently without crutches at 12 years, and also had moderate intellectual disability. Physical examinations revealed hypermyotonia, tendon hyperreflexia and muscle weakness in the lower extremities, and positive Babinski’ sign. On the basis of these findings, we clinically diagnosed the proband and his brother as having complicated hereditary spastic paraplegia. We also evaluated their mother and father; they were all asymptomatic and not consanguineous. Blood samples were obtained from the whole family and genomic DNA was extracted using standard methods. The next-generation sequencing was performed and Sanger sequencing was used to
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