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Brain Sci. 2018, 8(7), 136;

Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I

Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
George E. Wahlen Department of Veterans Administration Medical Center, Salt Lake City, UT 84148, USA
Tennessee Valley Health Care System, Veterans Administration Medical Center, Nashville, TN 37212-2637, USA
Author to whom correspondence should be addressed.
Received: 15 June 2018 / Revised: 9 July 2018 / Accepted: 14 July 2018 / Published: 19 July 2018
(This article belongs to the Special Issue Advances in Genetics of Hereditary Spastic Paraplegia)
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Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurological disorders. HSP is classified as pure when only a spastic weakness of the lower extremities is present. Complex HSP comes with additional neurological or systemic abnormalities. Complex HSP with skeletal abnormalities is rare and mostly seen in autosomal recessive HSP. Autosomal dominant (AD) complex HSP with skeletal abnormalities are consistently seen only in SPG9 (spastic gait type 9). In this paper, we report a kindred condition with AD HSP among four living affected individuals who had progressive, adult onset spastic paraparesis that was associated with a distal arthrogryposis (DA) in every affected individual. They also had episodes of rhabdomyolysis without any clinical signs of myopathy. Exhaustive genetic analysis including targeted sequencing of known HSP and DA genes and whole exome sequencing did not identify the disease-causing gene. It excluded all known HSP and DA genes. We propose that this is a novel genetic type of complex AD HSP. Elucidation of a genetic cause of this type of HSP will further contribute to our understanding of axonal degeneration and skeletal abnormalities. View Full-Text
Keywords: hereditary spastic paraplegia; complex phenotype; distal arthrogryposis hereditary spastic paraplegia; complex phenotype; distal arthrogryposis

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Hedera, P.; Moretti, P.; Howard, J.; Zhao, J. Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. Brain Sci. 2018, 8, 136.

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