Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe three pathological cases of akinetic mutism with, as a common basic lesion, bilateral infarction of the cingulate gyrus secondary to aneurysm of the anterior communicating artery (case n degrees 1), to a huge olfactory meningioma (case n degrees 2), both operated on, and to atheromatous occlusion of the anterior cerebral arterial system (case n degrees 3). These three cases enable a variety of "anterior and waking" akinetic mutism to be described which is unusual enough to be compared with other mesencephalic and diencephalic aspects of this syndrome. It is in fact an akinetic mutism characterized by: a certain dissociation in its non-response to various stimuli, a particularly marked appearance of wakefulness when day-time alertness is considered, conservation of the waking-sleeping rhythm, perception and reaction unpredictable and paradoxical in both degree and quality, complete absence of any spontaneous verbal communication in contrast to relative break-down of solicited communication which is infrequent, uncertain and unresponsive to the usual methods of stimulation, without any possibility of a code. In addition, there is a remarkable mimic and segmental general akinesia, resistant to the usual nociceptive stimuli, but sensitive to slight excitation of the manual and oral zones. Besides this special akinetic mutism, there are variously systematised signs, mostly asymmetrical, indicating lesion of the cortico-sub-cortical frontal structures bordering on the gyrus cinguli. This unusual behaviour pattern corresponds in these three cases to extensive anterior bilateral ischemic lesions of the cingulate gyrus regularly associated with bilateral infarctions confined to the medial aspect of F1 in the superficial territory of the two anterior cerebral arteries, to possible neurosurgical changes (ablation of the right frontal pole) and to compressive or ischaemic lesions of the gyrus rectus. These exclusively cortico-sub-cortical associated lesions are in contrast with the remarkably intact caudate nuclei, the pallidal, thalamic, hypothalamic and septal formations and the anterior pillars of the fornix. These findings compared with the results of experimental research carried out by M. Kennard, help, if help is needed, to resolve the apparent contradictions between the effects of therapeutic cingulectomies or cingulotomies and the scanty pathological data already available in cerebral vascular pathology.
 ...
PMID:[Akinetic mutism and bicingular softening. 3 anatomo-clinical cases]. 113 49

The parkinsonian syndrome rests on the clinical tripod: akinesia, rigidity, tremor. Akinesia is the key symptom, broadly defined as a difficulty in initiating and performing movements in proportion to their complexity (sophisticated, simultaneous movements) and their duration (repetitive movements). The most frequent cause of the syndrome is Parkinson's disease. Although this diagnosis needs to be confirmed in pathological terms by the loss of neurons and the presence of Lewy's bodies in the substantia nigra, some clinical data enable it to be envisaged with a minimum of errors; these are pure parkinsonian triad, good response to dopatherapy and asymmetrical symptoms. The other causes of parkinsonian syndrome are usually related to the administration of neuroleptic drugs and to degenerative diseases with lesions that are more diffuse than those of Parkinson's disease. In Steele-Richardson-Olzewski disease a parkinsonian syndrome is associated with supranuclear ophthalmoplegia. Multiple systematized atrophy presents under three different clinical aspects: a parkinsonian syndrome without tremor and resistant to L-dopa, suggesting atrophy of the strionigral tract; a parkinsonian syndrome associated with a cerebellar syndrome, suggesting olivo-cerebellar-pontine atrophy, and Shy-Drager disease which includes primary dysautonomy and other neurological syndromes.
 ...
PMID:[Parkinson's disease and parkinsonian syndromes]. 272 71

Five cases are reported of patients with so-called primary progressive apraxia, defined as a slowly worsening disturbance of gestural abilities, without other major cognitive changes during a long period, in relation to degenerative cortical atrophy. All five cases, as other cases in the literature, share the following common features: 1) asymmetrical onset of upper limb clumsiness, more often involving the left side, later involving the contralateral side and lower limbs; 2) after a variable delay, the occurrence of symptoms suggesting subcortical involvement (akinesia, limb stiffness, various kinds of movement disorders, dystonia, paresis of vertical gaze); 3) diffuse cortical atrophy typically more pronounced in the superior parietal cortex opposite to the first side affected. The unusual nature of apraxia in all these cases is pointed out and referred to as Luria's "kinesthaesic apraxia", ascribed to a loss of "selectivity" of distal elementary movements. This pattern of symptoms and their specific outcome could represent a distinct entity.
 ...
PMID:[Characterization of gestural disorders in primary progressive apraxia: diagnostic and nosographic contribution]. 859 46

Three cases are reported of attempted termination of pregnancy in which the children were later born with arthrogryposis. These cases were seen at Children's Hospital in Vancouver, British Columbia, Canada. The mothers underwent therapeutic dilatation and curettage during early fetal life (8-12 weeks gestation) in all 3 cases. All children were delivered prematurely (31-32 weeks gestation). They were small for gestational age. The lower limbs were more involved than the upper limbs in all 3 cases. Limb involvement was asymmetrical. Hirsutism was common. In 2 cases, the mothers experienced amniotic fluid leakage. Two cases had anomalies probably due to vascular compromise (scar in patient 1 and abdominal wall defects and bowel atresia in patient 2). Two cases had decreased facial movement. Two cases are functioning surprisingly well. The 16-year-old walks without help, attends high school, and has normal intelligence. The 22-year-old attends college, works in a clerical position, lives independently, and has normal intelligence. Attempted termination of pregnancy likely decreased blood flow to uterine and/or placental blood vessels with possible loss of placental vasculature. The reduced blood flow probably caused fetal hypoxia leading to anoxic injury of tissue and/or blood clots or blockage of blood flow resulting in possible cell death, particularly anterior horn cell death or failure. Inferior anterior horn cell function would likely cause fetal akinesia and secondary multiple joint contractures. Thus, in all 3 cases, it appears that the cause of the contractures is vascular compromise that caused loss of functional neurons with secondary decreased fetal movement.
 ...
PMID:Arthrogryposis associated with unsuccessful attempts at termination of pregnancy. 872 23

Pallidotomy is a neurosurgical procedure designed to ameliorate the akinesia and bradykinesia associated with Parkinson's disease. In the present study, the effects of pallidal-like lesions on motor behavior in the hemiparkinsonian rat were compared to the effects of lesions in the ventrolateral thalamus, a target of entopeduncular projections feeding motor-related information to motor cortex. Six aspects of spontaneous and evoked behavior induced by amphetamine and apomorphine in the hemiparkinsonian rat with either bilateral electrolytic entopeduncular lesions or bilateral electrolytic ventrolateral thalamic lesions were measured for 60 min. Saline or amphetamine, 5 mg/kg, or apomorphine, 0.3 mg/kg, were administered IP 5 min before the tests. The results show that on all measures except time spent resting the hemiparkinsonian rats with the entopeduncular lesions were more active than the hemiparkinsonian rats with the thalamic lesions. The asymmetrical rotation responses to dopamine receptor stimulation evoked by amphetamine and apomorphine were influenced by the general effect on gross motor behavior, as shown by the response being very large in the entopeduncular group and very small in the thalamic group. These results are consistent with current thinking about the functional organization of the basal ganglia according to which damage of the entopeduncular nucleus reduces its inhibitory control of the thalamic motor regions, thereby promoting thalamic facilitation of motor cortex, and damage to the thalamic motor regions has the opposite effect. These effects of the lesions translate, respectively, into hyperactivity and hypoactivity without blocking the asymmetrical rotation response of the hemiparkinsonian rat.
 ...
PMID:Entopeduncular lesions facilitate and thalamic lesions depress spontaneous and drug-evoked motor behavior in the hemiparkinsonian rat. 1130 59

The clinical features of nine patients (three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 +/- 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 +/- 8.5 years, and average disease duration was 21 +/- 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features.
 ...
PMID:Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families. 1174 30

The clinical criteria of Parkinson's disease are akinesia in combination with at least one of the following three symptoms: tremor (asymmetrical resting tremor), rigidity, impairment of posture, gait and balance. Symptomatic and atypical parkinsonian syndromes are ruled out by history, clinical examination, cranial CT, MRI, SPECT or PET. Patients with Parkinson's disease respond to levodopa or dopaminagonists throughout the course of the disease. Parkinson's disease is also characterised by various vegetative symptoms, impairment of olfaction, anxiety, depression, and with increasing age also by cognitive deficits and dementia.
 ...
PMID:[Clinical criteria of Parkinson's disease]. 1722 18

Diffusion tensor imaging and voxel based morphometry are efficient in the diagnosis of neurodegenerative disorders, however, these technologies are available at a limited number of facilities. Thus, conventional MRI remains important in the diagnosis of neurodegenerative disorders. Dorsolateral putaminal hyperintensity (DPH) and hot cross bun sign discriminate Parkinson's disease from multiple system atrophy (MSA). However, differences in magnetic field strength and sequence affect the sensitivity of DPH, and mild DPH may be observed in normal elderly subjects. Patients with progressive supranuclear palsy (PSP) presenting Richardson's syndrome show midbrain tegmentum atrophy, but Parkinsonian PSP (PSP-P) and pure akinesia with gait freezing, which are other phenotypes of PSP, may not show especially during early course of illness. In patients with corticobasal degeneration (CBD), asymmetrical cerebral atrophy corresponding with corticobasal syndrome (CBS) may be a characteristic finding. However, at autopsy, CBS patients presenting asymmetrical cerebral atrophy have CBD as the underlying pathology in approximately 50% of PSP patients. The sensitivity and specificity of MRI for the diagnosis of MSA, PSP, and CBD is based generally on clinical diagnostic criteria. Diagnosis based on MRI has limitations, and, therefore, we should reconsider our diagnoses, particularly during the early course of illness.
 ...
PMID:[The diagnosis of neurodegenerative disorders based on clinical and pathological findings using an MRI approach]. 2227 95

Seipinopathies are a group of inherited diseases affecting upper and lower motor neurons due to mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2). We report a French family carrying the N88S mutation in the BSCL2 gene. A 12-yr-old girl complained of bilateral asymmetrical pes cavus with right hand motor deficit and amyotrophy, asymmetrical leg amyotrophy and pyramidal signs. Electrophysiological examination showed axonal asymmetrical motor neuropathy with distal predominance. Her father complained of right hand rest tremor with bilateral hand weakness. Physical examination revealed left leg, hand and forearm amyotrophy, akinesia and right arm rigidity, brisk reflexes in the lower limbs and bilateral Babinski sign. Nerve conduction studies showed distal asymmetrical axonal neuropathy with slight sensitive impairment with moderate decrease of nerve conduction velocity in some nerves. DNA sequencing revealed the presence of the known N88S mutation in the BSCL2 gene (dideoxy-nucleotide method on a 3730 DNA Analyzer, Life Technologies). BSCL2 gene mutations are associated with a wide spectrum of clinical and electrophysiological phenotypes and should be suspected in cases of distal hereditary motor neuropathy with pyramidal signs or early hand involvement. There may also be associated mild demyelination which may vary in severity within the same family. Clinical diagnosis was more difficult in this particular case due to the association with Parkinson symptoms.
...
PMID:Clinical and electrophysiological features in a French family presenting with seipinopathy. 2545 68

Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait. She underwent successful transplant from a hepatic and surgical standpoint, but her postoperative course was marked by protracted mutism, hypophonia, and fluctuating akinesia and immobility that did not respond promptly to withdrawal of calcineurin inhibitors or pramipexole but did respond robustly to amantadine. At 9 months posttransplant, there was marked neurologic improvement, and, at 18 months, she exhibited subtle memory and organizational difficulties but was fully ambulatory and otherwise completely functional. Our experience suggests that even patients with severe neurologic Wilson disease may recover after transplant, albeit slowly, demonstrating the need for a multidisciplinary approach, including pre- and posttransplant neurologic and neuropsychiatric consultations.
 ...
PMID:Liver Transplant Can Resolve Severe Neuropsychiatric Manifestations of Wilson Disease: A Case Report. 2791 67


1