Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

• Published in: Neurology Vol. 60; no. 4; p. 674
• Main Authors: Lesca, G, Eymard-Pierre, E, Santorelli, F M, Cusmai, R, Di Capua, M, Valente, E M, Attia-Sobol, J, Plauchu, H, Leuzzi, V, Ponzone, A, Boespflug-Tanguy, O, Bertini, E
• Format: Journal Article
• Language: English
• Published: United States 25.02.2003
• Subjects: Adolescent; Adult; Brain - diagnostic imaging; Brain - pathology; Child; Child, Preschool; Disease Progression; DNA Mutational Analysis; Electrodiagnosis; Female; Guanine Nucleotide Exchange Factors - genetics; Haplotypes; Humans; Infant; Magnetic Resonance Imaging; Male; Mutation; Neurologic Examination; Pedigree; Spastic Paraplegia, Hereditary - diagnosis; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - pathology; Spinal Cord - diagnostic imaging; Spinal Cord - pathology; Tomography, X-Ray Computed

To report clinical, neuroradiologic, neurophysiologic, and genetic findings on 16 patients from 11 unrelated families with a remarkable uniform phenotype characterized by infantile ascending hereditary spastic paralysis (IAHSP). Sixteen patients from 11 families, originating from North Africa and Eu...