Open AccessClinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study
Author(s) -
Andrea Martinuzzi,
Domenico Montanaro,
Marinela Vavla,
Gabriella Paparella,
Paolo Bonanni,
Olimpia Musumeci,
Erika Brighina,
Hana Hlavata,
Giuseppe Rossi,
Gayanè Aghakhanyan,
Nicola Martino,
Alessandra Baratto,
Maria Grazia D’Angelo,
Francesca Peruch,
Marianna Fantin,
Alessia Arnoldi,
Andrea Citterio,
Chiara Vantaggiato,
Vincenzo Rizzo,
Antonio Toscano,
Nereo Bresolin,
Maria Teresa Bassi
Publication year - 2016
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0153283
Subject(s) - hereditary spastic paraplegia , paraplegia , medicine , physical medicine and rehabilitation , spastic , motor impairment , physical therapy , cerebral palsy , genetics , biology , spinal cord , phenotype , psychiatry , gene
Background Hereditary spastic paraplegias (HSP) are a composite and genetically heterogeneous group of conditions mainly expressed by the impairment of the central motor system (“pure” forms). The involvement of other components of the central nervous system or of other systems is described in the “complicate” forms. The definition of an investigation protocol capable, by assembling clinical and paraclinical indicators to fully represent the extent of the motor system impairment, would help both the clinical handling of these conditions and contribute to our understanding of their pathogenesis. Methods We applied a clinical and paraclinical protocol which included tools exploring motor and non motor functioning, neurophysiology and MRI to a composite cohort of 70 molecularly defined HSP patients aged 3 to 65, to define for each indicator its significance in detailing the presence and the severity of the pathology. Results Clinically increased deep tendon reflexes and lower limb (LL) weakness are constant findings in all patients. The “complicated” forms are characterized by peripheral motor impairment, cognitive and cerebellar involvement. The Spastic Paraplegia Rating Scale efficiently reflects the severity of functional problems and correlates with disease duration. Neurophysiology consistently documents the impairment of the central motor pathway to the LLs. Nevertheless, the upper extremities and sensory system involvement is a frequent finding. MRI diffusion tensor imaging (DTI) highlighted a significant alteration of FA and MD. Combining the sampling of the various portion of the cortico-spinal tract (CST) DTI consistently discriminated patients from controls. Conclusion We propose a graded clinical and paraclinical protocol for HSP phenotype definition, indicating for each tool the discriminative and descriptive capacity. Our protocol applied to 9 different forms of HSP showed that the functional impairment often extends beyond the CST. The novel DTI approach may add significant elements in disease recognition, staging and mapping.