Posted - September 2020 in Research Highlights
New mutation in SPG7 implicated
A new mutation has been found in two siblings for SPG7 HSP, with overlap occurring between primary progressive Multiple Sclerosis (PPMS) and HSP.
Primary progressive multiple sclerosis (PPMS) presents with clinical signs of slowly progressive long tract dysfunction that can overlap with neurodegenerative disorders, such as hereditary spastic paraplegia (HSP).
Herein, we present two siblings in whom we have identified a novel mutation in the paraplegin (SPG7) gene. The proband, a 49-year-old woman, presented with a five-year history of progressive spastic paraparesis and ataxia. Brain MRI showed mild cerebellar atrophy. The genetic study revealed a homozygous mutation in the SPG7 gene that led to the diagnosis of HSP. Four years previously, the younger brother had complained of slowly progressive spastic-ataxic gait that started one year before; MRI had disclosed multiple areas of white matter hyperintensity with contrast enhancement.
A diagnosis of active PPMS was made, and the patient started Disease-Modifying Therapy with further clinical and radiological stability. Once a genetic diagnosis was achieved in his sister, the patient underwent SPG7 testing, which disclosed the same mutation. Whether MS is a mimicry of HSP or it represents “double trouble” condition in this patient, it remains undetermined.
SOURCE: Mult Scler Relat Disord. 2020 Jun 14;44:102302. doi: 10.1016/j.msard.2020.102302. Online ahead of print. PMID: 32570181 Copyright © 2020 Elsevier B.V. All rights reserved.
A new paraplegin mutation in a patient with primary progressive multiple sclerosis
Angelo Bellinvia 1, Luisa Pastò 2, Claudia Niccolai 3, Alessandra Tessa 4, Riccardo Carrai 5, Cristiana Martinelli 5, Marco Moretti 6, Maria Pia Amato 7, Filippo Maria Santorelli 4, Sandro Sorbi 7, Sabrina Matà 8
1 Department of NEUROFARBA, Section Neurosciences, University of Firenze, Firenze, Italy.
2 Department of Neurological Rehabilitation, AOU Careggi, Firenze, Italy.
3 IRCCS Don Carlo Gnocchi, Firenze, Italy.
4 Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.
5 Department of Neurophysiopathology, AOU Careggi, Firenze, Italy.
6 Department of Neuroradiology, AOU Careggi, Firenze, Italy.
7 Department of NEUROFARBA, Section Neurosciences, University of Firenze, Firenze, Italy; IRCCS Don Carlo Gnocchi, Firenze, Italy.
8 Department of Neurology, AOU Careggi, Largo Palagi 1, Firenze 50139, Italy. Electronic address: [email protected]