منابع مشابه
Startle responses in hereditary hyperekplexia.
BACKGROUND Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of the glycine receptor. OBJECTIVE To measure startle reflexes and autonomic responses in the majo...
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A large pedigree showing a history of pyridoxine responsive X linked sideroblastic anaemia was screened with several polymorphic DNA markers from the X chromosome. Linkage analysis between each marker and disease status was performed, giving a maximum two point lod score of 3.64 at zero recombination with the microsatellite marker PGK1P1 at Xq11.2-12. Close linkage to PGK at Xq13.3, one of the ...
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K HEREDITARY, developmental, posterior polar cataract has been encountered in a North Country family and its descendants over five generations. It shows two unique features: progression and anticipation. Although several types of hereditary cataract have already been fully reported in the literature, only one satisfactory pedigree relating to posterior polar cataract has previously been recorde...
متن کاملStartle disease (hyperekplexia): a hereditary disorder with abnormal startle, falling spells, and attacks of spontaneous clonus
STARTLE is a basic alerting reaction common to all mammals. A rapid reflex not amenable to voluntary control, startle was studied extensively by Strauss in 1929,1 and is the subject of a 1939 monograph by Landis and Hunt2 and of a more recent study by Gogan.3 In the human adult, except for minor interpersonal variations, a stereotyped motor pattern is seen consisting of eye blinking; facial gri...
متن کاملPhobic anxiety disorder in hereditary hyperekplexia – Comorbidity or a coincidence: Case reports of two siblings
Hyperekplexia (startle disease) is a rare non-epileptic neurological entity resulting from gene mutation. The onset of this disorder is usually in infancy, but can be delayed until early adulthood. Patients with this disorder usually have normal mental development. Patients with hyperekplexia may present with symptoms ranging from sub-syndromal anxiety, to symptoms of syndromal anxiety disorder...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2018
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.cn-001129