"Objectives: Hereditary Spastic Paraparesis (HSP) associated with SPAST gene mutation (SPG4) is by far the most frequent clinical form of pure autosomal dominant HSP (AD-HSP) with the typical features of onset in juvenile or early adult age, clinically exclusive signs of involvement of pyramidal tracts in the lower limbs, slowly progressive course with relative mild overall disability. However wide variability in age of onset and severity both intra- and interfamilial, occasional cognitive involvement, and incomplete penetrance of SPAST gene mutations have been repeatedly reported with no clear explanations (White et al., 2000; Namekawa et al. 2006). In order to better characterize these phenomena we analysed a large series of patients from Italy with genetically confirmed SPG4.. . Methods: For all available living family members complete clinical evaluation included neurological examination, Spastic Paraplegia rating Scale scoring system ( Schüle et al., 2006), Barthel index, careful reexamination of past medical history and existing clinical records. Results: 10 families have been studied, 109 patients, 53 males and 56 females. Mean age at onset, severity score of the disease, velocity progression have been determined and compared among male and female patients, within the same and among different families.. Conclusions: Our study represents so far the largest series of Italian patients with genetically confirmed SPG4. The obtained results allow an objective description of the phenomena of intra- and interfamilial variability.. . References:. 1.\tWhite KD, MBChB, Ince PG et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 2000;55:89-94. 2.\tNamekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology, 2006; 66; 112-114. 3.\tSchüle R, Holland-Letz, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schöls L. The Spastic Paraplegia Rating Scale (SPRS): A reliable and valid measure of disease severity. Neurology, 2006; 67; 430-434. . "
Hereditary spastic paraparesis (hsp) associated with spast gene mutation (SPG4): analysis of a large series from Italy / Racis, Loretta; Difabio, R; Santorelli, Fm; Tessa, A; Piccolo, F; Pierelli, F; Casali, C.. - In: ACTA MYOLOGICA. - ISSN 1128-2460. - (2011), pp. 73-73.