Expanded phenotype in a patient with spastic paraplegia 7
Open Access
- 24 August 2017
- journal article
- research article
- Published by Wiley in Clinical Case Reports
- Vol. 5 (10), 1620-1622
- https://doi.org/10.1002/ccr3.1109
Abstract
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.Keywords
This publication has 16 references indexed in Scilit:
- Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanismsExperimental Neurology, 2014
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanismsActa Neuropathologica, 2013
- Child Neurology: Hereditary spastic paraplegia in childrenNeurology, 2010
- Paraplegin mutations in sporadic adult-onset upper motor neuron syndromesNeurology, 2008
- A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegiaHuman Mutation, 2008
- Mutation analysis of the paraplegin gene ( SPG7 ) in patients with hereditary spastic paraplegiaNeurology, 2006
- Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegiaJCI Insight, 2005
- The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in MitochondriaCell, 2005
- Progressive ataxia and palatal tremor (PAPT): Clinical and MRI assessment with review of palatal tremorsBrain, 2004
- Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transportJCI Insight, 2004