TY - JOUR
T1 - A new paraplegin mutation in a patient with primary progressive multiple sclerosis
AU - Bellinvia, Angelo
AU - Pastò, Luisa
AU - Niccolai, Claudia
AU - Tessa, Alessandra
AU - Carrai, Riccardo
AU - Martinelli, Cristiana
AU - Moretti, Marco
AU - Amato, Maria Pia
AU - Santorelli, Filippo Maria
AU - Sorbi, Sandro
AU - Matà, Sabrina
PY - 2020/9
Y1 - 2020/9
N2 - 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.
AB - 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.
KW - Hereditary spastic paraparesis
KW - Multiple sclerosis
KW - SPG7
KW - White matter changes
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U2 - 10.1016/j.msard.2020.102302
DO - 10.1016/j.msard.2020.102302
M3 - Article
AN - SCOPUS:85086509680
VL - 44
JO - Multiple Sclerosis and Related Disorders
JF - Multiple Sclerosis and Related Disorders
SN - 2211-0348
M1 - 102302
ER -