Clinical neurological aspects of familial dysautonomia
| Autor: | P.W. Brunt, M. Mahloudji, Victor A. McKusick |
|---|---|
| Rok vydání: | 1970 |
| Předmět: |
Nervous system
Male Pathology medicine.medical_specialty Adolescent Neural Conduction Sensory system Disease Nervous System Neurologic Manifestations Motor system medicine Dysautonomia Familial Humans Child business.industry Dysautonomia Infant medicine.disease Acetylcholine Autonomic nervous system medicine.anatomical_structure Neurology Familial dysautonomia Child Preschool Female Neurology (clinical) medicine.symptom business Neuroscience medicine.drug |
| Zdroj: | Journal of the neurological sciences. 11(4) |
| ISSN: | 0022-510X |
| Popis: | Dysautonomia is a disease with widespread neurological manifestations involving not only the autonomic nervous system (labile hypertension, vascular instability, abnormal sweating, hypolacrima, etc.) but also the sensory and motor systems. The clinical findings with particular reference to the nervous system are described in 48 patients and 6 patients are described in some detail. On the basis of these findings and of the genetic, neuropathological and physiological characteristics of the disorder it is suggested that the defect in this syndrome involves a deficiency or modification of a neurohumoral transmitter substance, possibly acetylcholine itself. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|