Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.

Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Expert Review of Neurotherapeutics. 2019-04-30; 19(5): 409-415
DOI: 10.1080/14737175.2019.1608824

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1. Expert Rev Neurother. 2019 May;19(5):409-415. doi: 10.1080/14737175.2019.1608824.
Epub 2019 Apr 30.

Hereditary spastic paraplegias: time for an objective case definition and a new
nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.

Elsayed LEO(1), Eltazi IZM(1), Ahmed AEM(1), Stevanin G(2)(3).

Author information:
(1)a Faculty of Medicine , University of Khartoum , Khartoum , Sudan.
(2)b Basic to Translational Neurogenetics team , Institut du Cerveau et de la
Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Université UMR_S1127 ,
Paris , France.
(3)c Neurogenetics team , Ecole Pratique des Hautes Etudes, EPHE, PSL Research
University , Paris , France.

INTRODUCTION: Hereditary spastic paraplegias (HSPs) are heterogeneous
neurodegenerative disorders characterized by progressive lower limb weakness and
spasticity as core symptoms of the degeneration of the corticospinal motor
neurons. Even after exclusion of infectious and toxic mimickers of these
disorders, the definitive diagnosis remains tricky, mainly in sporadic forms, as
there is significant overlap with other disorders. Since their first description,
various attempts failed to reach an appropriate classification. This was due to
the constant expansion of the clinical spectrum of these diseases and the
discovery of new genes, a significant number of them was involved in overlapping
diseases. Areas covered: In this perspective review, an extensive literature
study was conducted on the historical progress of HSP research. We also revised
the previous and the current classifications of HSP and the closely related
neurogenetic disorders and analyzed the areas of overlap. Expert opinion: There
is undeniable need for objective case definition and reclassification of all
neurogenetic disorders including HSPs, a prerequisite to improve patient
follow-up, biomarker identification and develop therapeutics. The challenge is to
understand why mutations can give rise to multiple phenotypic presentations along
this spectrum of diseases in which the corticospinal tract is affected.

DOI: 10.1080/14737175.2019.1608824
PMID: 31037979 [Indexed for MEDLINE]

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