Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0085632 (apathy)
 4,089 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Frequent episodes of bilateral weakness and apathy, followed later by hemiplegia of alternating sides were observed in a now 32-month-old girl. Transcranial Doppler ultrasonography showed reduced flow velocities in the middle cerebral artery of the affected side during a hemiplegic attack and increased flow velocities at different sites of the basilar artery during a bilateral episode. These abnormal cerebral hemodynamics appear to indicate that alternating hemiplegia and some forms of migraine have a similar pathophysiology.
 ...
PMID:Abnormal cerebral hemodynamics during attacks of alternating hemiplegia. 139 59

A 20 year old male naval crew-member suffering from sea sickness was treated with transdermal scopolamine (TS). After 5 months of continuous treatment, he developed scopolamine intoxication followed by the appearance of recurrent classic migraine attacks. He had never suffered from headache or migraine prior to TS intoxication. The migraine attacks comprised a prodrome of apathy, bad mood and loss of appetite lasting several hours. An aura of scintillating spots, left arm numbness and paresthesias lasting several minutes was followed by a severe throbbing unilateral headache with photophobia, sonophobia and nausea. After one year of repeated follow-up examination, he continued to suffer from the attacks once every 10 to 14 days, with no identified precipitating factors. We are not aware of similar cases in the medical literature. Although it is not possible to establish TS intoxication as a causal effect of the appearance of classic migraine in our patient, the temporal association and clinical course are very supportive of this assumption. Central nervous system neurotransmitter imbalance of cardiovascular alterations may possibly be implicated.
 ...
PMID:Recurrent classic migraine attacks following transdermal scopolamine intoxication. 207 97

Benign paroxysmal torticollis of infancy (BPTI) is a disorder characterized by recurrent episodes of head tilt secondary to cervical dystonia. Attacks are often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes begin within the first 12 months of life and resolve by 5 years. We report four patients with BPTI. Symptoms started from 3 months of age, with head tilting lasting between 10 minutes and 2 months; the shorter episodes were followed by vomiting, apathy, and unsteadiness. Head tilt became less prominent after infancy, replaced by vertigo and eventually by migraine headaches. Two patients came from a kindred with familial hemiplegic migraine linked to CACNA1A mutation. BPTI may be regarded as a migraine aura equivalent. The syndrome poses interesting questions regarding varying phenotypic expression of calcium channelopathies at different stages of development.
 ...
PMID:Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. 1216 87

Macdonald Critchley, a world renowned neurologist, is best remembered as the person who challenged to solve the mystery and enigma of higher cerebral functions. He was the author of over 200 published articles and 20 books on neurology including his pioneer work on developmental dyslexia, the parietal lobe, cerebral hemisphere dominance and aphasiology. He also published articles on migraine, epilepsy, dementia, visual perseveration, anterior cerebral artery syndromes, indifference to pain, sleep disorders, movement disorders, and myotonia. He was very erudite and talented in linguistics; his interests were broad and eclectic. He wrote extensively on non-medical topics, such as plays, horror stories, mythology, and biographies of distinguished neuroscientists, philosophers or artists. His articles were written in the elegant prose style with thorough reference citations and extensive reviews of the literature worldwide. He was born in Bristol in 1900. From an early age, he was fascinated with the functioning brain and retained a life-long interest in languages. He was appointed to the Consultant staff of the National Hospital, Queen Square, and to King's College Hospital at the age of 27, and was elected to become FRCP at 30. He was Dean of the Institute of Neurology from 1948 to 1953. When I was studying advanced neurology at Queen Square in 1960-1961, I was fascinated by his outstanding lectures on Huntington's Disease and Non-verbal Communication. Although he did not read the manuscripts and used only a few slides for illustrations in his lectures, he could describe the details of historical accounts and relevant figures. He was an altruistic, instructive teacher with keen attention to responses from the audience. His clinical demonstrations, teaching rounds and tutorials were hugely popular among postgraduate students from all over the world. He emphasized the importance of shrewd observation and careful history taking in neurological practice. Macdonald Critchley was President of the World Federation of Neurology (1965-1973) and Editor of Journal of the Neurological Sciences. I met him at the 2nd Asian and Oceanian Congress of Neurology held in Melbourne in 1967. He was interested to know more about aphasia and dyslexia among people speaking and reading Chinese. He kindly invited me to speak on 'Linguistic Implications of Chinese Characters' at the meeting of the Research Group on Developmental Dyslexia in Dallas. Critchley's prominent achievements in teaching, writings and research on neurology derived from his creative thinking, powers of shrewd observation, wide knowledge of literature, and indefatigable assiduity in scientific pursuits. He died peacefully at home at the age of 97 and entered the pantheon of distinguished neuroscientists of the 20th century.
 ...
PMID:[Tributes to Macdonald Critchley and his achievements in neurolinguistics]. 1868 54

Studies of genetic forms of epilepsy, chronic pain, and migraine caused by mutations in ion channels have given crucial insights into molecular mechanisms, pathogenesis, and therapeutic approaches to complex neurological disorders. Gain-of-function missense mutations in the brain type-I sodium channel Na(V)1.1 are a primary cause of generalized epilepsy with febrile seizures plus. Loss-of-function mutations in Na(V)1.1 channels cause severe myoclonic epilepsy of infancy, an intractable childhood epilepsy. Studies of a mouse model show that this disease is caused by selective loss of sodium current and excitability of GABAergic inhibitory interneurons, which leads to hyperexcitability, epilepsy, and ataxia. Mutations in the peripheral sodium channel Na(V)1.7 cause familial pain syndromes. Gain-of-function mutations cause erythromelalgia and paroxysmal extreme pain disorder as a result of hyperexcitability of sensory neurons, whereas loss-of-function mutations cause congenital indifference to pain because of attenuation of action potential firing. These experiments have defined correlations between genotype and phenotype in chronic pain diseases and focused attention on Na(V)1.7 as a therapeutic target. Familial hemiplegic migraine is caused by mutations in the calcium channel, Ca(V)2.1, which conducts P/Q-type calcium currents that initiate neurotransmitter release. These mutations increase activation at negative membrane potentials and increase evoked neurotransmitter release at cortical glutamatergic synapses. Studies of a mouse genetic model show that these gain-of-function effects lead to cortical spreading depression, aura, and potentially migraine. Overall, these experiments indicate that imbalance in the activity of excitatory and inhibitory neurons is an important underlying cause of these diseases.
 ...
PMID:Inherited neuronal ion channelopathies: new windows on complex neurological diseases. 1900 38

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a dominantly inherited small artery disease that leads to dementia and disability in mid-life. The clinical presentation of CADASIL is variable between and within affected families and is characterized by symptoms including migraine with aura, subcortical ischemic events, mood disturbances, apathy, and cognitive impairment. The mean age at onset of symptoms is 45 years, with variable duration of the disease ranging from 10 to 40 years. In 1996, linkage studies mapped and identified mutations in the NOTCH3 gene on chromosome 19 as causative in CADASIL. Head magnetic resonance imaging (MRI) is always abnormal in participants with NOTCH3 mutations after age 35. Magnetic resonance imaging shows on T2-weighted images or fluid attenuation inversion recovery (FLAIR) sequence, widespread areas of increased signal in the white matter associated with focal hyperintensities in basal ganglia, thalamus, and brainstem. The pathologic hallmark of CADASIL is the presence of electron-dense granules in the media of arterioles that can be identified by electron microscopic evaluation of skin biopsies.
 ...
PMID:CADASIL. 2104 64

Benign paroxysmal torticollis is probably an under-diagnosed condition of infancy. It is a self-limiting disorder characterised by periods of unusual, sustained posture of the head and neck, during which the head tilts to one side. Episodes are often accompanied by marked autonomic features, irritability, ataxia, apathy and drowsiness. They last several hours to a few days and are often recurring every few weeks. They subside within the pre-school years; however, during later childhood, there is a tendency to develop migraine. Three cases of benign paroxysmal torticollis are presented and are compared with cases in the literature. A telephone survey has been conducted to determine what is the general awareness of paediatricians of this condition in Cyprus. Eighty-two paediatricians were randomly selected out of 235 paediatricians. All of them agreed to participate. Our cases revealed that benign paroxysmal torticollis may coexist with other problems during infancy. The telephone survey showed that only two out of eighty-two (2.4%) of the paediatricians are aware of the condition, and none of them was confident regarding the management. Our telephone survey clearly shows that Cypriot paediatricians are not familiar with benign paroxysmal torticollis in infancy which is a benign, self-limiting disorder. It is essential to recognise the condition and to reassure parents of its benign course and not to be misdiagnosed for other disorders, such as epileptic seizures. We have shown again that benign paroxysmal torticollis in infancy may coexist with motor delay and hearing problems.
...
PMID:Benign paroxysmal torticollis of infancy: An underdiagnosed condition. 2564 90

CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argentina.Methods Medical records, diagnostic tests and family history of patients with CADASIL were reviewed.Results Thirteen patients with CADASIL (10 families) were included. All patients had European ancestry. Initial presentation was stroke in most patients (n = 11). Stroke patients later developed cognitive complaints (n = 9), migraine with aura (n = 1), apathy (n = 4) and depression (n = 6). External capsule and temporal lobe involvement on MRI were characteristic imaging findings. Two patients died after intracerebral hemorrhage.Conclusion This is the first report of non-related patients with CADASIL in South America addressing ancestry. Since European ancestry is not highly prevalent in all South American countries, there may be variable incidence of CADASIL within this region.
...
PMID:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina. 2635 92

The aim of the paper is to show the various neurological and psychiatric symptoms in coeliac disease (CD). CD is a T cell-mediated, tissue-specific autoimmune disease which affects genetically susceptible individuals after dietary exposure to proline- and glutamine-rich proteins contained in certain cereal grains. Genetics, environmental factors and different immune systems, together with the presence of auto-antigens, are taken into account when identifying the pathogenesis of CD. CD pathogenesis is related to immune dysregulation, which involves the gastrointestinal system, and the extra-intestinal systems such as the nervous system, whose neurological symptoms are evidenced in CD patients. A gluten-free diet (GFD) could avoid cerebellar ataxia, epilepsy, neuropathies, migraine and mild cognitive impairment. Furthermore, untreated CD patients have more symptoms and psychiatric co-morbidities than those treated with a GFD. Common psychiatric symptoms in untreated CD adult patients include depression, apathy, anxiety, and irritability and schizophrenia is also common in untreated CD. Several studies show improvement in psychiatric symptoms after the start of a GFD. The present review discusses the state of the art regarding neurological and psychiatric complications in CD and highlights the evidence supporting a role for GFD in reducing neurological and psychiatric complications.
 ...
PMID:The progression of coeliac disease: its neurological and psychiatric implications. 2797 6

Introduction Prospective memory is the ability to carry out a delayed intended action, so to maintain and retrieve future plans, goals and activities. Deficits of prospective memory negatively impact on patients and caregivers' everyday living and determine poor adherence to treatment. Since frontal regions are involved in both event- and time-based prospective memory tasks and are impaired in migraine without aura, defects of prospective memory might occur in migraine without aura patients; until now this issue has not been investigated. The aim of the current study was to explore time- versus event-based prospective memory in migraine without aura. Patients and methods Ninty-one consecutive migraine without aura patients and 84 healthy subjects were enrolled in the study. They underwent a standardized measure of prospective memory evaluating both time-based and event-based prospective memory, and the Montreal Cognitive Assessment assessing global cognitive status. Moreover, all participants completed the Beck Depression Inventory-II and a self-administered version of the Apathy Evaluation Scale, to assess severity of depressive symptoms and apathy, respectively. Results Migraine without aura and healthy subjects did not differ on demographic aspects (i.e. age, education and gender). However, individuals with migraine without aura demonstrated impaired prospective memory performance compared to healthy subjects, with a greater impairment demonstrated for the time-based tasks. Within the migraine without aura group, no significant association was found between prospective memory performance and clinical scores, apathy, and depression. Conclusions Individuals with migraine without aura experience particular difficulty executing a future intention; therefore, migraine without aura is associated with dysfunction of prospective memory.
 ...
PMID:Prospective memory is dysfunctional in migraine without aura. 2941 39


1 2 Next >>