Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

Abstract

To perform a clinical and genetic study of Tunisian families with autosomal recessive (AR) hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

“…The four families with Kjellin syndrome in our study are of Swedish and Iranian origin, further demonstrating the widespread occurrence of SPG11 ‐related disease. The five mutations presented here are located across the SPG11 gene which is consistent with previous reports [Del Bo et al, 2007; Hehr et al, 2007; Stevanin et al, 2007, 2008; Boukhris et al, 2008b; Lee et al, 2008; Liao et al, 2008; Paisan‐Ruiz et al, 2008a,b; Samaranch et al, 2008; Zhang et al, 2008]. Four of the mutations in our families are novel whereas the transition c.5623C > T (p.Q1875X) in exon 30 was reported recently in a family from England [Paisan‐Ruiz et al, 2008b].…”

“…In addition, all four probands showed signal intensity changes in the cerebral white matter on T2‐weighted images as well as small hyperintense bundles anterior to the frontal horns. This finding can be seen on images from other studies [Boukhris et al, 2008b; Stevanin et al, 2008; Zhang et al, 2008]. The white matter changes are periventricular with a diffuse or patchy pattern that appear symmetrical.…”

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

“…The four families with Kjellin syndrome in our study are of Swedish and Iranian origin, further demonstrating the widespread occurrence of SPG11 ‐related disease. The five mutations presented here are located across the SPG11 gene which is consistent with previous reports [Del Bo et al, 2007; Hehr et al, 2007; Stevanin et al, 2007, 2008; Boukhris et al, 2008b; Lee et al, 2008; Liao et al, 2008; Paisan‐Ruiz et al, 2008a,b; Samaranch et al, 2008; Zhang et al, 2008]. Four of the mutations in our families are novel whereas the transition c.5623C > T (p.Q1875X) in exon 30 was reported recently in a family from England [Paisan‐Ruiz et al, 2008b].…”

“…In addition, all four probands showed signal intensity changes in the cerebral white matter on T2‐weighted images as well as small hyperintense bundles anterior to the frontal horns. This finding can be seen on images from other studies [Boukhris et al, 2008b; Stevanin et al, 2008; Zhang et al, 2008]. The white matter changes are periventricular with a diffuse or patchy pattern that appear symmetrical.…”

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

“…The clinical presentation and the MRI features in such cases did not grossly differ from patients having both alleles mutated. These findings reinforce previous notions on genetic heterogeneity in ARHSP-TCC (Casali et al 2004;Boukhris et al 2008a). Although the presence of non-conventional variants remains possible, mutations in other genes are also to be expected.…”

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

“…Similar to other communities with high consanguinity, 9,10 we found that AR HSP inheritance is predominant in Sudan. However, in our series, the complex phenotype is predominant (84%), which is in disagreement with Coutinho et al 9 who elicited a predominant pure phenotype, but in agreement with a study in South Tunisia 10 that reported 69% of complex cases.…”

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

“…The four families with Kjellin syndrome in our study are of Swedish and Iranian origin, further demonstrating the widespread occurrence of SPG11 ‐related disease. The five mutations presented here are located across the SPG11 gene which is consistent with previous reports [Del Bo et al, 2007; Hehr et al, 2007; Stevanin et al, 2007, 2008; Boukhris et al, 2008b; Lee et al, 2008; Liao et al, 2008; Paisan‐Ruiz et al, 2008a,b; Samaranch et al, 2008; Zhang et al, 2008]. Four of the mutations in our families are novel whereas the transition c.5623C > T (p.Q1875X) in exon 30 was reported recently in a family from England [Paisan‐Ruiz et al, 2008b].…”

“…In addition, all four probands showed signal intensity changes in the cerebral white matter on T2‐weighted images as well as small hyperintense bundles anterior to the frontal horns. This finding can be seen on images from other studies [Boukhris et al, 2008b; Stevanin et al, 2008; Zhang et al, 2008]. The white matter changes are periventricular with a diffuse or patchy pattern that appear symmetrical.…”

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

“…The clinical presentation and the MRI features in such cases did not grossly differ from patients having both alleles mutated. These findings reinforce previous notions on genetic heterogeneity in ARHSP-TCC (Casali et al 2004;Boukhris et al 2008a). Although the presence of non-conventional variants remains possible, mutations in other genes are also to be expected.…”

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

“…Similar to other communities with high consanguinity, 9,10 we found that AR HSP inheritance is predominant in Sudan. However, in our series, the complex phenotype is predominant (84%), which is in disagreement with Coutinho et al 9 who elicited a predominant pure phenotype, but in agreement with a study in South Tunisia 10 that reported 69% of complex cases.…”

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

“…The four families with Kjellin syndrome in our study are of Swedish and Iranian origin, further demonstrating the widespread occurrence of SPG11 ‐related disease. The five mutations presented here are located across the SPG11 gene which is consistent with previous reports [Del Bo et al, 2007; Hehr et al, 2007; Stevanin et al, 2007, 2008; Boukhris et al, 2008b; Lee et al, 2008; Liao et al, 2008; Paisan‐Ruiz et al, 2008a,b; Samaranch et al, 2008; Zhang et al, 2008]. Four of the mutations in our families are novel whereas the transition c.5623C > T (p.Q1875X) in exon 30 was reported recently in a family from England [Paisan‐Ruiz et al, 2008b].…”

“…In addition, all four probands showed signal intensity changes in the cerebral white matter on T2‐weighted images as well as small hyperintense bundles anterior to the frontal horns. This finding can be seen on images from other studies [Boukhris et al, 2008b; Stevanin et al, 2008; Zhang et al, 2008]. The white matter changes are periventricular with a diffuse or patchy pattern that appear symmetrical.…”

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

“…The clinical presentation and the MRI features in such cases did not grossly differ from patients having both alleles mutated. These findings reinforce previous notions on genetic heterogeneity in ARHSP-TCC (Casali et al 2004;Boukhris et al 2008a). Although the presence of non-conventional variants remains possible, mutations in other genes are also to be expected.…”

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

“…Similar to other communities with high consanguinity, 9,10 we found that AR HSP inheritance is predominant in Sudan. However, in our series, the complex phenotype is predominant (84%), which is in disagreement with Coutinho et al 9 who elicited a predominant pure phenotype, but in agreement with a study in South Tunisia 10 that reported 69% of complex cases.…”