Книги з теми "Neurogenetic syndrome"

There are many genetic diseases which affect the nervous system. Although some of these are extremely rare, several are quite common and, as a group, they comprise a significant proportion of neurological disease. Almost all clinical neurological syndromes can have a genetic cause. Not all of these have been genetically elucidated, but some have been extensively characterized in terms of clinical phenotype, molecular genetics, and cellular pathophysiology. Given the improvement in laboratory techniques and subsequent reduction in the cost of direct DNA sequencing, there is likely to be a rapid expansion over the next decade in the identification of causative genes and hence the availability of genetic tests. Thus, all clinicians should have a basic understanding about genetic disease; inheritance patterns; availability of genetic tests; genetic counselling; and ethics. Particular subspeciality areas where neurogenetic disease is common include neuromuscular disease and movement disorders.

Autism is a deeply contested condition. To some, it is a devastating invader, robbing families of their children and sufferers of their personhood. To others, it is a form of neurodiversity, a fundamental and often valued aspect of identity that is more similar to race or gender than to disease states. How do young people coming of age with an autism spectrum diagnosis make sense of this conflict in the context of their own developing identity? The book addresses this question through sustained ethnographic engagement, informed by both clinical psychology and anthropology, within communities where people on the autism spectrum come together to live, learn, work, love, and play. Using an approach known as clinical ethnography, the book tracks neuroscientific discourses as they are adopted, circulated, and transformed among those affected by Asperger’s syndrome and related autism spectrum conditions. Dominant ways of talking about autism, whether as invasive disease or as hardwired neurogenetic identity, share a fundamental presupposition: that the healthy self is sharply bounded and destroyed if it is altered. However, the subjective experiences of youth on the spectrum exceed the limitations of these medical models. Reaching beyond medicine for their narratives of difference and disorder, these youth draw instead on shared mythologies from popular culture and speculative fiction to conceptualize their experiences of discontinuous and permeable personhood. In doing so, they also pioneer more inclusive understandings of what makes us who we are.

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.