Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues

2000 ◽  
Vol 99 (3) ◽  
pp. 223-230 ◽  
Author(s):  
D. H. Gutmann ◽  
Y. Zhang ◽  
M. J. Hasbani ◽  
M. P. Goldberg ◽  
T. L. Plank ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Products

scholarly journals Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

2015 ◽  
Vol 7 (2) ◽  
pp. 96-99
Author(s):  
Prasad Mylarappa ◽  
Avinash B Patil ◽  
Sandeep Puvvada ◽  
Amey Pathade ◽  
D Ramesh
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Lymph Nodes ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Rare Case ◽  
Review Of Literature ◽  
Medical Sciences ◽  
Regional Lymph Nodes ◽  
Neurocutaneous Syndrome

Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.Asian Journal of Medical Sciences Vol.7(2) 2015 96-99

Central nervous system manifestations of tuberous sclerosis complex

2018 ◽  
Vol 178 (3) ◽  
pp. 291-298 ◽  
Author(s):  
Derek S. Lu ◽  
Patrick J. Karas ◽  
Darcy A. Krueger ◽  
Howard L. Weiner
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

scholarly journals Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/− cells

Oncogene ◽  
2002 ◽  
Vol 21 (25) ◽  
pp. 4050-4059 ◽  
Author(s):  
Erik J Uhlmann ◽  
Anthony J Apicelli ◽  
Rebecca L Baldwin ◽  
Stephen P Burke ◽  
M Livia Bajenaru ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Products ◽  
P27 Kip1

scholarly journals Detection of human cytomegalovirus genome and gene products in central nervous system tumours

2005 ◽  
Vol 92 (4) ◽  
pp. 747-750 ◽  
Author(s):  
J Sabatier ◽  
E Uro-Coste ◽  
I Pommepuy ◽  
F Labrousse ◽  
S Allart ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Human Cytomegalovirus ◽  
Gene Products ◽  
Central Nervous System Tumours

scholarly journals Profiles of mental development of children with tuberous sclerosis

2019 ◽  
pp. 78-85
Author(s):  
L. A. Troitskaya ◽  
N. E. Malakhova ◽  
A. D. Rodionova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tuberous Sclerosis ◽  
Genetic Disorder ◽  
Mental Development ◽  
Psychological Status ◽  
Speech Communication ◽  
Central Nervous System Damage ◽  
Severity Of The Disease

Tuberous sclerosis complex (TSC) is a peculiar genetic disorder that is associated with prenatal central nervous system damage that impairs child’s post-natal mental development. Aim of the study is to define how severity of TCS affects the peculiarities of 7 to 12 years old children’s mental development. The study examines ways for the application of psychological methods to diagnose this disease in children. «Profiles of psychological developments» that included assessment of substantial and constructive activities, games and play activities, speech, communication, emotional-volitional and motor areas, and self-care were created based on the examination of 24 children. A distinct qualitative variability of mental development that ranged from the norm to grave underdevelopment including in rare cases intellectual and behavioral regression was identified. Timely determination of children’s psychological status with tuberous sclerosis was shown to be necessary to plan and implement correctional psychological, pedagogical, social assistance, and serve as one of the markers contributing to severity of the disease.

scholarly journals Distribution of the Sex combs reduced Gene Products in Drosophila melanogaster

Genetics ◽  
1987 ◽  
Vol 117 (1) ◽  
pp. 51-60
Author(s):  
James W Mahaffey ◽  
Thomas C Kaufman
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Temporal Distribution ◽  
Spatial And Temporal Distribution ◽  
Gene Products ◽  
Genetic Studies ◽  
Sex Combs Reduced ◽  
Sex Combs ◽  
The Central Nervous System ◽  
Differential Timing

ABSTRACT The spatial and temporal distribution of RNA and protein encoded by the homeotic Sex combs reduced (Scr) gene were examined during Drosophila development. The gene products are present in the epidermis of both the labial and first thoracic segments as would be predicted from prior genetic studies. However, the pattern in the central nervous system (CNS) and mesoderm is further restricted; the major expression located in the labial neuromere of the CNS and the mesoderm of the first thoracic segment. The spatial restriction within the CNS is correlated with and may be due to a differential timing of expression in the labial and first thoracic ectoderm. The labial ectoderm accumulates the Scr RNA prior to segregation of the neuroblasts while expression in the first thoracic ectoderm occurs after neuroblast segregation. The protein is also observed in the subesophageal ganglia of both larvae and adults, as well as in the labial and first thoracic imaginal discs. Surprisingly, the protein is also present to a lesser extent in second and third thoracic leg discs.

Neurocutaneous syndromes

2011 ◽  
Author(s):  
Robert Grant
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Pancreatic Cysts ◽  
Von Hippel Lindau ◽  
Weber Syndrome ◽  
Von Hippel Lindau Disease ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndromes

This chapter describes several neurocutaneous syndromes, including tuberous sclerosis, neurofibromatosis, Sturge–Weber syndrome, Von-Hippel–Lindau disease and ataxia telangiectasia amongst others.Tuberous sclerosis, also known as Epiloia or Bournville’s Disease, is an autosomal dominant multisystem disease it usually presents in childhood with a characteristic facial rash, adenoma sebaceum, seizures, and sometimes learning difficulties. Central nervous system lesions in tuberous sclerosis are due to a developmental disorder of neurogenesis and neuronal migration. Other organs such as the heart and kidney are less commonly involved. The condition has very variable clinical expression and two-thirds of cases are thought to be new mutations, therefore it is important to examine and screen relatives. Management may involve many specialists and close co-operation between specialists is essential.The neurofibromatoses are autosomal-dominant neurocutaneous disorders that can be divided into ‘peripheral’ and ‘central’ types, although there is significant overlap. The characteristic features of neurofibromatosis type 1 are café au lait spots, neurofibromas, Lisch nodules, osseous lesions, macrocephaly, short stature and mental retardation, axillary freckling, and associations with several different types of tumours.Sturge–Weber syndrome involves a characteristic ‘port-wine’ facial naevus or angioma associated with an underlying leptomeningeal angioma or other vascular anomaly. It affects approximately 1/20 000 people. There can be seizures, low IQ, and underlying cerebral hemisphere atrophy as a result of chronic state of reduced perfusion and increased oxygen extraction. Patients may present with focal seizures which are generally resistant to anticonvulsant medication and can develop glaucoma.Von-Hippel– Lindau disease is one of the most common autosomal-dominant inherited genetic diseases that are associated with familial cancers. Von-Hippel–Lindau disease is characterized by certain types of central nervous system tumours, cerebellar and spinal haemangioblastomas, and retinal angiomas, in conjunction with bilateral renal cysts carcinomas or phaechromocytoma, or pancreatic cysts/islet cell tumours (Neumann and Wiestler 1991).Other neurocutaneous syndromes discussed include Hypomelanosis of Ito, Gorlin syndrome, Sjogren–Larsson syndrome, Proteus syndrome, Hemiatrophy and hemihypertrophy, Menke’s syndrome, Xeroderma pigmentosum and Cockayne’s syndrome.

Sign in / Sign up

Export Citation Format

Share Document