Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Casali, Carlo; Valente, Enza Maria; Bertini, Enrico; Montagna, G.; Criscuolo, Chiara; Michele, Giuseppe De; Villanova, Marcello; Damiano, Maria; Pierallini, A.; Brancati, Francesco; Scarano, Valentina; Tessa, Alessandra; Cricchi, Federica; Grieco, Gaetano S.; Muglia, M.; Carella, Massimo; Martini, Barbara; Rossi, Alessandro; Amabile, G; Nappi, Giuseppe; Filla, Alessandro; Dallapiccola, Bruno; Santorelli, Filippo M.

doi:10.1212/wnl.62.2.262

Cited by 67 publications

(87 citation statements)

References 17 publications

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“…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.…”

Section: Discussionsupporting

confidence: 90%

“…Since the initial reports linking Mediterranean and Asian ARHSP-TCC families to the SPG11 locus on chromosome 15q (Martinez-Murillo et al 1999;Shibasaki et al 2000), several groups, including our teams, proved that this phenotype has a worldwide distribution (Casali et al 2004;Lossos et al 2006;Olmez et al 2006;França et al 2007;Stevanin et al 2007Stevanin et al , 2008a and that it is particularly prevalent in the Mediterranean basin (Casali et al 2004;Stevanin et al 2006). More recently, we showed that ARHSP-TCC at this locus is associated with mutations in SPG11/KIAA1840 (MIM# 610844), a gene with an open reading frame of 7,787 nucleotides that comprises 40 exons and which spans a genomic region of approximately 100 Kb .…”

Section: Introductionmentioning

confidence: 79%

“…In all the patients, we had previously ruled out other causes of acquired spastic paraplegia such as multiple sclerosis, adrenoleukodystrophy, and mitochondrial diseases, as described (Casali et al 2004).…”

Section: Patientsmentioning

confidence: 99%

“…SPG11 mutation screening has been undertaken in at least one index case in 31 families with a neurological picture highly resembling the clinical features of ARHSP-TCC (Shibasaki et al 2000;Casali et al 2004;Lossos et al 2006;Stevanin et al 2006;Winner et al 2006) and in whom linkage to chromosome 15q had not been established a priori. We also included in the study a subset of isolated cases (n=20).…”

Section: Spg11 Mutation Screeningmentioning

confidence: 99%

See 3 more Smart Citations

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

Denora¹,

Schlesinger²,

Casali³

et al. 2009

Hum. Mutat.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 79%

Section: Patientsmentioning

confidence: 99%

Section: Spg11 Mutation Screeningmentioning

confidence: 99%

See 2 more Smart Citations

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

Denora¹,

Schlesinger²,

Casali³

et al. 2009

Hum. Mutat.

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“…Disease causing variants in SPG11 (KIAA1840) (OMIM phenotype #604360) constitute the most frequent cause of TCCassociated HSP (41-77%) and up to for 10-20% of all AR HSP, particularly in the Mediterranean basin. 6,10,[12][13][14][15][16] Next-generation sequencing aided in the identification of many rare HSP genes. 1,17 TFG/SPG57 stands as an example of this genetic surge.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2016

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Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSPrelated genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family. Six out of seven identified variants were novel. The c.64C4T (p.(Arg22Trp)) TFG/SPG57 variant (PB1 domain) is the second identified that underlies HSP, and we demonstrated its impact on TFG oligomerization in vitro. Patients did not present with visual impairment as observed in a previously reported SPG57 family (c.316C4T (p.(Arg106Cys)) in coiled-coil domain), suggesting unique contributions of the PB1 and coiled-coil domains in TFG complex formation/function and a possible phenotype correlation to variant location. Some families manifested marked phenotypic variations implying the possibility of modifier factors complicated by high inbreeding. Finally, additional genetic heterogeneity is expected in HSP Sudanese families. The remaining families might unravel new genes or uncommon modes of inheritance.

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Hereditary Spastic Paraplegia

Fink¹,

Rainier²

2004

Arch Neurol

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Autosomal recessive hereditary spastic paraparesis (AR-HSP) associated with a thin corpus callosum (TCC) has recently been described in Japan. It is characterized by slowly progressive spastic paraparesis, mental retardation, and thalamic degeneration. We report two unrelated patients with progressive gait disturbance starting in the second decade of life, spastic paraparesis, pes cavus, and mental deterioration. One patient presented with acute psychosis, and the other had visual disturbances with normal tension glaucoma. A brain MRI of both patients showed a thin corpus callosum, and a brain SPECT revealed thalamic hypoperfusion in one patient. This is the first report of spastic paraparesis with a thin corpus callosum in Korea.

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Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Abstract: HSP-TCC is common in Italy. The phenotype is fairly homogeneous and is associated with impaired cognition. There are at least two loci for HSP-TCC, one of which is on chromosome 15q13-15.

Cited by 67 publications

References 17 publications

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

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

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

Hereditary Spastic Paraplegia

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