BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12). Recently, we identified a Tunisian kindred demonstrating linkage to the ARSACS locus. OBJECTIVE: To report clinical, neurophysiological, and nerve biopsy findings in patients with autosomal recessive cerebellar ataxia related to the SACS gene in Tunisia. PATIENTS AND METHODS: Genetic linkage analysis of patients with early-onset autosomal recessive cerebellar ataxia allowed the identification of 4 families from which 18 patients demonstrated linkage to the ARSACS locus. The patients were evaluated according to the International Cooperative Ataxia Rating Scale. Peripheral nerve conduction, sensory evoked potentials, and nerve biopsy were performed in most patients. RESULTS: The mean age at onset was 4.5 years. The clinical phenotype was stereotyped and associated with a progressive cerebellar syndrome, a pyramidal syndrome with brisk knee reflexes, and Babinski sign and absent ankle reflexes. The course of the disease varied among patients. Sensory evoked potentials showed severe posterior column involvement. Peripheral nerve investigations demonstrated axonal and demyelinating neuropathy. Four mutations, 2 missense and 2 nonsense, were found. CONCLUSION: In Tunisia, autosomal recessive cerebellar ataxia related to the SACS gene demonstrated a homogenous phenotype and heterogeneous allelic mutations.
BACKGROUND:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12). Recently, we identified a Tunisian kindred demonstrating linkage to the ARSACS locus. OBJECTIVE: To report clinical, neurophysiological, and nerve biopsy findings in patients with autosomal recessive cerebellar ataxia related to the SACS gene in Tunisia. PATIENTS AND METHODS: Genetic linkage analysis of patients with early-onset autosomal recessive cerebellar ataxia allowed the identification of 4 families from which 18 patients demonstrated linkage to the ARSACS locus. The patients were evaluated according to the International Cooperative Ataxia Rating Scale. Peripheral nerve conduction, sensory evoked potentials, and nerve biopsy were performed in most patients. RESULTS: The mean age at onset was 4.5 years. The clinical phenotype was stereotyped and associated with a progressive cerebellar syndrome, a pyramidal syndrome with brisk knee reflexes, and Babinski sign and absent ankle reflexes. The course of the disease varied among patients. Sensory evoked potentials showed severe posterior column involvement. Peripheral nerve investigations demonstrated axonal and demyelinating neuropathy. Four mutations, 2 missense and 2 nonsense, were found. CONCLUSION: In Tunisia, autosomal recessive cerebellar ataxia related to the SACS gene demonstrated a homogenous phenotype and heterogeneous allelic mutations.
Authors: José Gazulla; Isabel Benavente; Ana Carmen Vela; Miguel Angel Marín; Luis Emilio Pablo; Alessandra Tessa; María Rosario Barrena; Filippo Maria Santorelli; Claudia Nesti; Pedro Modrego; María Tintoré; José Berciano Journal: J Neurol Date: 2011-10-13 Impact factor: 4.849
Authors: Katharina Vill; Wolfgang Müller-Felber; Dieter Gläser; Marius Kuhn; Veronika Teusch; Herbert Schreiber; Joachim Weis; Jörg Klepper; Anja Schirmacher; Astrid Blaschek; Manuela Wiessner; Tim M Strom; Bianca Dräger; Kristina Hofmeister-Kiltz; Moritz Tacke; Lucia Gerstl; Peter Young; Rita Horvath; Jan Senderek Journal: Hum Genet Date: 2018-11-21 Impact factor: 4.132
Authors: M Anheim; M Fleury; B Monga; V Laugel; D Chaigne; G Rodier; E Ginglinger; C Boulay; S Courtois; N Drouot; M Fritsch; J P Delaunoy; D Stoppa-Lyonnet; C Tranchant; M Koenig Journal: Neurogenetics Date: 2009-05-14 Impact factor: 2.660
Authors: Liena E O Elsayed; Inaam N Mohammed; Ahlam A A Hamed; Maha A Elseed; Adam Johnson; Mathilde Mairey; Hassab Elrasoul S A Mohamed; Mohamed N Idris; Mustafa A M Salih; Sarah M El-Sadig; Mahmoud E Koko; Ashraf Y O Mohamed; Laure Raymond; Marie Coutelier; Frédéric Darios; Rayan A Siddig; Ahmed K M A Ahmed; Arwa M A Babai; Hiba M O Malik; Zulfa M B M Omer; Eman O E Mohamed; Hanan B Eltahir; Nasr Aldin A Magboul; Elfatih E Bushara; Abdelrahman Elnour; Salah M Abdel Rahim; Abdelmoneim Alattaya; Mustafa I Elbashir; Muntaser E Ibrahim; Alexandra Durr; Anjon Audhya; Alexis Brice; Ammar E Ahmed; Giovanni Stevanin Journal: Eur J Hum Genet Date: 2016-09-07 Impact factor: 4.246