Unlabelled: Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease.
Results: The patient exhibited hypotonia during infancy, after which intellectual disability, epileptic fits, spastic paraplegia, and cerebellar atrophy occurred. Genetic analysis revealed a novel mutation (c.254C > A, p.A85D) in the motor domain of .
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297067 | PMC |
| http://dx.doi.org/10.1016/j.ensci.2018.11.026 | DOI Listing |
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