Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15

Y, Shibasaki; Tanaka, Hajime; Iwabuchi, K; Kawasaki, Sari; Kondo, Hiroshi; Uekawa, Kazutoshi; Ueda, Masayuki; Kamiya, T.; Katayama, Yasuo; Nakamura, Akinori; Takashima, Hiroshi; Nakagawa, Masanori; Masuda, Masayuki; Utsumi, Hiroya; Nakamuro, T; Tada, Kazuo; Kurohara, Kazuhiro; Inoue, Ken; Koike, Fumihiko; Sakai, Tetsuo; Tsuji, Shoji; Kobayashi, Hisashi

doi:10.1002/1531-8249(200007)48:1<108::aid-ana17>3.0.co;2-a

Cited by 66 publications

(38 citation statements)

References 10 publications

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“…There are several reports in the literature of white matter hyperintensities (diffuse or patchy) and corpus callosum abnormalities in association with HSP. 9,10,17,19,20,[26][27][28][29][30] Thinning of the cervical and thoracic spinal cord has been noted in HSP. 31 Volume loss is an expected finding as there is a degeneration of the longer corticospinal tracts to the spinal cord (mainly to the lower limbs) and dorsal column pathway within the spinal cord.…”

Section: Discussionmentioning

confidence: 98%

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Koul¹,

Al-Murshedi²,

Al-Azri³

et al. 2013

SQUMJ

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abstract:Objectives: The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. Methods: This retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded. The children were labelled as having either the pure or complicated form of HSP based on the established diagnostic criteria. In families with more than one affected child, parents and all other siblings were also examined. Results: Within the study, 74 children from 31 families were diagnosed with HSP. Parental consanguinity was seen in 91% of cases, with 44 children (59.4%) experiencing onset of the disease under one year of age. Complicated HSP was the most common type, seen in 81.1%. Speech involvement, mental retardation, and epilepsy were the most common associated abnormalities. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. Conclusion: The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases. Keywords

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Section: Discussionmentioning

confidence: 98%

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Koul¹,

Al-Murshedi²,

Al-Azri³

et al. 2013

SQUMJ

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“…Consanguineous marriage is frequent and was present in 8 of 13 families studied by Shibasaki et al 5 Cerebellar ataxia and sensory loss in the distal parts of four extremities also occur in some patients. Other clinical features include spasticity and hiperreflexia in the upper limbs, muscle atrophy, pes cavus, impaired vibration sense, urinary disturbance, dysarthria, nystagmus, congenital cataracts, and cerebellar atrophy [3][4][5][6] . Disease duration influences the clinical features, since associated signs and symptoms appears as disease progresses.…”

Section: Discussionmentioning

confidence: 99%

“…The diagnostic criteria of autosomal recessive HSP with thin corpus callosum include the following: (1) inheritance consistent with autosomal recessive trait, (2) slowly progressive spastic paraparesis and mental impairment, (3) thinning of the corpus callosum as revealed by brain CT or MRI, and (4) exclusion of other disorders by MRI of the spine and brain as well as other laboratory tests 5 .…”

Section: Discussionmentioning

confidence: 99%

Hereditary spastic paraplegia associated with thin corpus callosum

Teive

Iwamoto

Coletta

et al. 2001

Arq. Neuro-Psiquiatr.

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-Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. .urther studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries.KEY WORDS: hereditary spastic paraplegia, corpus callosum, MRI.Paraplegia espástica hereditária associada a hipoplasia de corpo caloso RESUMO -A paraplegia espástica hereditária autossômica recessiva (PEH-AR) associada com hipoplasia de corpo caloso foi inicialmente descrita no Japão. Estudos de ligação genética mostram que a maioria das famílias estão relacionadas ao cromossomo 15q13-15. Relatamos dois pacientes de famílias brasileiras, não relacionadas, com distúrbio de marcha com início na segunda década de vida, paraparesia espástica e comprometimento das funções cognitivas. Um dos pacientes apresentava ataxia cerebelar. A ressonância magnética de encéfalo de ambos os pacientes mostrou hipoplasia de corpo caloso. PEH-AR associada com hipoplasia de corpo caloso é uma condição rara, descrita principalmente em pacientes do Japão. Encontramos apenas 4 famílias caucasianas com PEH-AR e hipoplasia de corpo caloso. Mais estudos com famílias caucasianas são necessários para delinear o perfil genético dessa síndrome em países ocidentais. PALAVRAS-CHAVE: paraplegia espástica hereditária, corpo caloso, ressonância magnética.

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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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Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15

Cited by 66 publications

References 10 publications

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Hereditary spastic paraplegia associated with thin corpus callosum

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

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