OBJECTIVE: Two families with autosomal recessive hereditary spastic paraplegia and pigmented maculopathy are described. METHODS: All family members were examined by two neurologists. An assessment of cognitive function in affected members was made using the mini mental state examination (MMSE) or Cambridge cognitive examination (CAMCOG). RESULTS: Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. Although they were always considered to be intellectually slower than their peers, further intellectual deterioration was noted during the second decade. Five had a pigmented maculopathy with mild decrease in visual acuity and all had distal amyotrophy, mild cerebellar signs, and developed faecal and urinary incontinence late in the course of the disease. CONCLUSION: The association of hereditary spastic paraplegia and pigmented maculopathy has rarely been described; only 11 families with 32 affected members have been reported, showing considerable heterogeneity in presentation. These described conditions may be allelic or more probably reflect mutations at different genetic loci.
OBJECTIVE: Two families with autosomal recessive hereditary spastic paraplegia and pigmented maculopathy are described. METHODS: All family members were examined by two neurologists. An assessment of cognitive function in affected members was made using the mini mental state examination (MMSE) or Cambridge cognitive examination (CAMCOG). RESULTS: Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. Although they were always considered to be intellectually slower than their peers, further intellectual deterioration was noted during the second decade. Five had a pigmented maculopathy with mild decrease in visual acuity and all had distal amyotrophy, mild cerebellar signs, and developed faecal and urinary incontinence late in the course of the disease. CONCLUSION: The association of hereditary spastic paraplegia and pigmented maculopathy has rarely been described; only 11 families with 32 affected members have been reported, showing considerable heterogeneity in presentation. These described conditions may be allelic or more probably reflect mutations at different genetic loci.
Authors: Sylvain Hanein; Elodie Martin; Amir Boukhris; Paula Byrne; Cyril Goizet; Abdelmadjid Hamri; Ali Benomar; Alexander Lossos; Paola Denora; José Fernandez; Nizar Elleuch; Sylvie Forlani; Alexandra Durr; Imed Feki; Michael Hutchinson; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Giovanni Stevanin Journal: Am J Hum Genet Date: 2008-04 Impact factor: 11.025
Authors: Chiara Vantaggiato; Claudia Crimella; Giovanni Airoldi; Roman Polishchuk; Sara Bonato; Erika Brighina; Marina Scarlato; Olimpia Musumeci; Antonio Toscano; Andrea Martinuzzi; Filippo Maria Santorelli; Andrea Ballabio; Nereo Bresolin; Emilio Clementi; Maria Teresa Bassi Journal: Brain Date: 2013-09-11 Impact factor: 13.501