bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Prospective Study of 50 Cases of Familial Parkinson’s Disease
Authors: Roy Madeleine , Boyer Liette , Barbeau André 
Published: July 2016

SUMMARY:In a recent paper (Barbeau and Pourcher, 1982) we demonstrated that so-called “idiopathic” Parkinson’s disease is not a homogeneous entity, and defined the existence of a sub-group of patients with genetic parkinsonism. To investigate this last possibility, and to uncover possible metabolic clues as to the etiology of such cases, we carried out a prospective study of 50 kindreds with “familial” parkinsonism. Two control groups were similarly studied: 50 kindreds with essential tremor (neurological control group) and 50 kindreds originating from spouses of the previous patients (non neurological control group). We uncovered two main patterns of genetic transmission within the parkinsonian patients: a parkinsonism related to dominant essential tremor (34 kindreds; 10% of all Parkinsonians) and a recessive “akineto-rigid syndrome” (10 kindreds; 3–4% of all Parkinsonians). A further 4 kindreds assumed a pseudo-dominant pattern but were probably recessive. Finally 2 kindreds were obviously other entities presenting as “phenocopies” of Parkinson’s disease. Metabolically, hyperthyroidism appeared to be more frequent in essential tremor and “essential-tremor related parkinsonism” kindreds, while hypothyroidism and possibly hypoparathyroidism (post surgery) seemed more frequent in the recessive akineto-rigid syndrome kindreds.
Lower Motor Neuron Syndrome Following Radiotherapy
Authors: Horowitz Sandra L. , Stewart John D. 
Published: July 2016

SUMMARY:A 33 year old man developed bilateral leg weakness two years following radiotherapy to the pelvis and lower abdomen for the treatment of a seminoma. Clinical and electrophysiological examinations and nerve and muscle biopsies suggest that this is an example of either post-irradiation myelopathy selectively affecting the anterior horn cells in the lower spinal cord or a purely motor lumbo-sacral radiculopathy.
Tuberous Sclerosis in an Infant of 28 Weeks Gestational Age
Authors: Sharp Daniel , Robertson David M. 
Published: July 2016

SUMMARY:A case of tuberous sclerosis diagnosed at autopsy in a neonate at 28 weeks gestation is described. This is believed to be the earliest case yet reported. The CNS lesions consist of cortical tuberosities, heterotopic white matter nodules and subependymal nodules. These nodules consist predominantly of giant astrocytes but a small undifferentiated cell component is present as well. Multiple cardiac rhabdomyomas are also present. An explanation for neuronal hypocellularity within the cortical tuberosities is suggested.
Bromocriptine in the Long-Term Management of Advanced Parkinson’s Disease
Authors: David Grimes J. , Hassan Mohamed N. 
Published: July 2016

SUMMARY:Thirty-seven patients with advanced Parkinson’s disease who initially tolerated, and responded to bromocriptine therapy were followed for 12 to 50 (mean 28) months. Using a method of gradual increase of bromocriptine, with concomitant levodopa reduction, the peak effect of the drug was apparent by three months, at which time the mean daily dose of bromocriptine was 23.9 mg and Sinemet (levodopa + carbidopa) had been reduced by 34 percent.Eight patients had sustained improvement without further drug changes for an average of 29 (range 14–50) months. After periods of improvement varying between 3 and 30 months, 29 patients had a fall-off from peak effect. Peak effect was regained in 21 of these 29 patients for an average of 16 additional months by initially increasing bromocriptine or Sinemet, or by eventually increasing both drugs. The main adverse effect was a confusional state which necessitated late withdrawal of bromocriptine in four patients. The best results were in younger patients with end-of-dose deterioration and levodopa induced dyskinesias.With cautious introduction, and intermittent dosage adjustment, bromocriptine can be of long-term benefit to patients with advanced Parkinson’s disease. The majority of patients have a gradual late fall-off in effect which can frequently be reversed with dosage adjustment.
The Murine Ependymoblastoma: Growth Pattern and Survival in C57B1/6J Mice
Authors: Muller Paul J. , Shin Kyu H. , Shin Doo H. 
Published: July 2016

SUMMARY:The murine ependymoblastoma is a transplantable tumor of cerebral origin. The growth pattern and survival times of the murine ependymoblastoma implanted peripherally and intracranially in non nude C57B1/6J mice have been found to be predictable and consistent when examined by means of Tumor Cell Dose Assessment (end point solution), Tumor Growth and Survival Assessment. The results suggest that a greater tumor cell dose is required to generate peripheral tumor take than brain tumor take. This difference may result from a greater immunologic response to tumor implanted peripherally than into the immunologically privileged brain.
Mitochondrial Myopathy of Cerebro-Hepato-Renal (Zellweger) Syndrome
Authors: Sarnat Harvey B. , Machin Geoffrey , Darwish Husam Z. , Rubin Steven Z. 
Published: July 2016

SUMMARY:The muscles of four infants with cerebro-hepato-renal (Zellweger) syndrome were studied during life and/or at necropsy. A mitochondrial myopathy was demonstrated, similar to mitochondrial alterations demonstrated in liver and brain in this disease. Muscle fibers with red-staining subsarcolemmal aggregates were identified with Gomori trichome stain in two cases. Subsarcolemmal and intermyofibrillar zones of increased concentrations of NADH-TR, SDH, and cytochrome-c-oxidase activity were demonstrated histochemically in all four cases. Degenerative and cytoarchitectural changes in muscle fibers were not found. Ultrastructural studies showed large aggregates of mitochondria and increased lipid in the subsarcolemmal and intermyofibrillar spaces. Degenerative changes in mitochondria and lipid also were demonstrated, but paracrystalline inclusions were not seen. The distribution of these changes was not uniform between patients or between different muscles in the same patient. The diaphragm was affected more severely than proximal or distal muscles of the extremities. Direct involvement of muscle mitochondria in this disease may interfere with energy metabolism and contribute to the clinical findings of hypotonia, weakness, and respiratory insufficiency. The muscle biopsy with histochemistry and electron microscopy may be used as a diagnostic adjunct in suspected cases, but the variation encountered dictates caution in the interpretation of negative findings.
Infantile Huntington’s Disease
Authors: Haslam R.H.A. , Curry B. , Johns R. 
Published: July 2016

SUMMARY:A unique case of Huntington’s disease is reported because of the extremely early onset and death, and the atypical mode of presentation including severe behavioural problems and a negative family history. Although rare, Huntington’s disease must be considered along with the established degenerative disorders of white and gray matter peculiar to the pediatric population when one examines an infant or child with progressive motor deterioration, rigidity, mental retardation and behavioural abnormalities. Computed tomography is a reliable and non-invasive method of establishing the diagnosis during life.
Digital Nerve Sensory Potentials in Lesions of Cervical Roots and Brachial Plexus
Authors: Newman Michael , Nelson Norma 
Published: July 2016

SUMMARY:Normal values for the amplitudes of digital sensory nerve action potentials were obtained from 190 control subjects, using an orthodromic surface-recording technique. Lower limits were calculated, taking into account laterality, age and sex; the ratios of amplitudes between different digits were also estimated. The results in control subjects were compared with those of 20 cases of trauma involving root avulsion or extraspinal injury, 38 patients with intraspinal disease, 6 patients with extraspinal disorder and 9 cases of neuralgic amyotrophy. The variability of the dermatomes is discussed and it is concluded that digital sensory potential amplitudes offer a useful method of determining the site of a nerve lesion, provided certain limitations are recognized.
Sensory Nerve Conduction in Chronic Uremic Patients During the First Six Months of Hemodialysis
Authors: D’Amour M.L. , Dufresne L.R. , Morin C. , Slaughter D. 
Published: July 2016

ABSTRACT:In an attempt to find the best electrophysiological indicator of improvement for the neuropathy present in patients with chronic renal failure undergoing hemodialysis, several types of nerve conduction were studied at the beginning of dialysis and six months later. Sural nerve conduction and late response latencies were recorded in addition to conventional motor and sensory nerve conductions. After six months of hemodialysis, sensory nerve conduction velocities in the median, ulnar and sural nerves were improved. These values appear to be the most sensitive indices of the beneficial effect of hemodialysis on the neuropathy.
Clinicopathological Conference Carcinoma of the Pituitary Gland with Metastases to Bone
Authors: Myles S.T. , Johns R.D. , Curry B. 
Published: July 2016

ABSTRACT:The diagnosis of extracranial metastases from a pituitary tumor was confirmed by the use of the immunoperoxidase technique. This is believed to be the first case of carcinoma of the pituitary gland with bony metastases where the diagnosis has been confirmed in that manner.
Intermittent Treatment of Febrile Convulsions with Nitrazepam
Authors: Vanasse Michel , Masson Pierre , Geoffroy Guy , Larbrisseau Albert , David Pierre C. 
Published: July 2016

ABSTRACT:Intermittent oral or rectal administration of diazepam for the prophylactic treatment of febriie convulsions has given results comparable to the continuous use of phenobarbital while limiting side effects and risks of toxicity. Since we believe that nitrazepam is a better anticonvulsant than diazepam, we performed a study to evaluate the effectiveness of this medication in the prophylactic treatment of febrile convulsions. Nitrazepam was given only when the children had fever and almost exclusively in children with a high risk of recurrence (less than 12 months of age at first convulsion; atypical convulsion; one or several previous convulsions). Thirty one children with a high risk of recurrence received nitrazepam. The rate of recurrence in this group was 19.3% after a follow-up of 16 months, compared to 45.8% in 24 children who also had a high risk of recurrence but in whom the parents refused the medication or gave it inadequately (p<0.05). Fifty one children with a low risk of recurrence also were evaluated and followed for at least 12 months (mean 15.4 months). Six were treated with nitrazepam, mostly because of parental anxiety, and none had a recurrence; of the 45 untreated children in this group, 6 (13.6%) had another convulsion. These results show the efficiency of nitrazepam in the prophylactic treatment of febrile convulsions.
A Method for Measurement of Arterial Concentration of Cerebral Blood Flow Tracer for Autoradiographic Experiments
Authors: Menon Devidas , Diksic Mirko , Meyer Ernst , Sako Kazuhiro , Yamamoto Y. Lucas 
Published: July 2016

ABSTRACT:A new method for continuous monitoring of the concentration of 131I-labelled iodoantipy rine during an autoradiographic local cerebral blood flow (LCBF) experiment is described. During infusion of iodoantipy rine, radioactivity in an external femoral arteriovenous loop is monitored by a scintillation detector. Data is collected with a variable time base, and the arterial activity curve displayed visually in its entirety. The main advantage of this method is that there is no blood loss. It will therefore be of particular importance in dual-label autoradiography. This method can also be used for other gamma-emitting blood flow tracers, e.g. 123I-iodoantipyrine.
Oculoskeletal Myopathy with Abnormal Mitochondria
Authors: Bril V. , Rewcastle N. B. , Humphrey J. 
Published: July 2016

ABSTRACT:A clinical, electrophysiological and pathological review of 14 patients having oculoskeletal myopathy with abnormal mitochondria was undertaken. These patients present with ophthalmoplegia, and mild skeletal muscle weakness. The clinical course is slowly progressive. Electromyographic examination shows myopathic changes. Serum enzymes are normal. The diagnosis is confirmed by skeletal muscle biopsy which shows abnormal mitochondria, including crystalloid inclusions on electron microscopy. These patients form a distinct clinical group in which the risk of sudden cardiac death is much less than it is in the Kearns-Sayre syndrome.
Genetic Linkage of the Huntington’s Disease Gene to a DNA Marker
Authors: Gusella James F. 
Published: July 2016

ABSTRACTRecombinant DNA techniques have provided the means to generate large numbers of new genetic linkage markers. This technology has been used to identify a DNA marker that coinherits with the Huntington’s Disease (HD) gene in family studies. The HD locus has thereby been mapped to human chromosome 4. The discovery of a genetic marker for the inheritance of HD has implications both for patient care and future research. The same approach holds considerable promise for the investigation of other genetic diseases, including Dystonia Musculorum Deformans.
Saccadic Intrusions and Oscillations
Authors: Sharpe James A. , Fletcher William A. 
Published: July 2016

ABSTRACTThere are a number of different types of involuntary saccadic eye movements which differ from normal saccades in that they take the fovea away from its target. This article presents a classification and description of these abnormal eye movements and indicates how they may be used to increase the precision of neurologic diagnosis.
The Dopamine/Neuroleptic Receptor
Authors: Grigoriadis Dimitri , Seeman Philip 
Published: July 2016

ABSTRACTThe neuroleptic/dopamine receptor, with its picomolar affinity for potent neuroleptics, is the functional dopamine receptor of the brain. This receptor has been termed the D2dopamine receptor, and it inhibits or interferes with dopamine-stimulated adenylate cyclase. This D2receptor has two states, each having different affinity for dopamine. The high-affinity state, termed D2high, has a 10 nM affinity for dopamine and is the functional correlate for dopamine autoreceptors and for the dopamine receptor in the pituitary gland. The low-affinity state, termed D2low, has a 2000 nM affinity for dopamine, and may possibly represent the desensitized state of the dopamine receptor or the functional post-synaptic receptor.
Physiology of the Basal Ganglia: An Overview
Authors: Lee Robert G. 
Published: July 2016

ABSTRACTThe major anatomical connections of the basal ganglia are reviewed, emphasizing the inputs to the striatum and efferent projections from the major output nuclei, the internal segment of globus pallidus and the pars reticulata of substantia nigra. The results from lesioning experiments, electrical stimulation, and chronic recording of single neuron activity have provided a wealth of data concerning the physiology of the basal ganglia. Although the deficits resulting from disease of the basal ganglia are well recognized, the specific role which these structures play in the control of normal movements remains speculative.
Familial Subsets in Idiopathic Parkinson’s Disease
Authors: Barbeau André , Roy Madeleine 
Published: July 2016

ABSTRACTIn the present paper we explore in some detail the hypothesis that the presence of familial aggregations in 10–15% of Parkinson’s disease cases is due in great part to the existence of well-defined familial subsets, rather than to chance occurrences. We describe the clinical and genetic characteristics of the two main subsets: “Essential tremor-related Parkinsonism” and the “Familial akineto-rigid Syndrome” previously identified.The former type of Parkinsonism is associated at random, but with increased frequency, to an autosomal dominant disorder, usually essential tremor but occasionally OPCA. Two possible susceptibility factors were uncovered in this entity: an increased incidence of familial hyperthyroidism (augmentor factor) and a decreased incidence of the generally frequent HLA Haplotypes A1B8or A2B5(Protective factors).The other presentation, the “familial akineto-rigid syndrome”, appears to be a definite disease entity with an autosomal recessive mode of inheritance (normal parents, increased incidence of identical parkinsonism in sibs, increased consanguinity rate in parents). This newly defined disorder deserves much further genetic and biochemical analysis.
Neurochemical Basis of Dementia in Parkinson’s Disease
Authors: Hornykiewicz Oleh , Kish Stephen J. 
Published: July 2016

ABSTRACTAccording to their mental status, patients with Parkinson’s disease can be subdivided into three groups: (1) mentally normal patients; (2) patients with severe cognitive impairment and Alzheimer-type brain pathology (neuritic plaques, neurofibrillary tangles, granulovacuolar changes); and (3) demented patients without any evidence of Alzheimer changes. Neurochemically, irrespective of the presence or absence of Alzheimer-type brain pathology, demented Parkinson patients seem to have the same disturbance of cortical cholinergic neuron function as patients with Alzheimer-type dementia (Alzheimer’s disease), namely, reduced levels of cortical acetylcholine esterase and choline acetyltransferase activity. At present, the question whether the “cortical cholinergic deficiency” is the only (or sufficient) neurochemical basis for the cognitive impairment in Parkinson patients with dementia cannot be answered with certainty; the additional role of other neurotransmitter changes known to occur in the Parkinson brain, especially loss of cortical, hippocampal and subcortical noradrenaline and/or dopamine cannot be ruled out.
Positron Emission Tomography in Movement Disorders
Authors: Martin W. R. Wayne 
Published: July 2016

ABSTRACT:Positron emission tomography provides a method for the quantitation of regional function within the living human brain. Studies of cerebral metabolism and blood flow in patients with Huntington’s disease, Parkinson’s disease and focal dystonia have revealed functional abnormalities within substructures of the basal ganglia. Recent developments permit assessment of both pre-synaptic and post-synaptic function in dopaminergic pathways. These techniques are now being applied to studies of movement disorders in human subjects.
Adrenoleukodystrophy Mimicking Multiple Sclerosis
Authors: Dooley J.M. , Wright B.A. 
Published: July 2016

ABSTRACT:We report a 47 year old woman who was initially diagnosed as having multiple sclerosis. She has subsequently been found to be heterozygous for adrenoleukodystrophy (ALD). The female carrier state for ALD may be associated with intermittent symptoms and it is therefore important to consider ALD in patients diagnosed as multiple sclerosis.
Le Cerveau Influence-t-il le Développement Musculaire du Foetus Humain?
Authors: Sarnat Harvey B. 
Published: July 2016

ABSTRACT:Does the human fetal brain influence muscle development? The importance of suprasegmental cerebral influence on developing human fetal muscle is less well understood than the control of histochemical differentiation of muscle by the motor neuron. Muscle biopsies of 21 hypotonic infants and children with nonprogressive congenital lesions of the cerebellum and/or brainstem were studied by histochemical methods. Two neonates who died with severely dysplastic brains and no descending motor tracts had normal muscle. The others, particularly those with cerebellar hypoplasia, had delayed muscle maturation, selective predominance of type I or II muscle fibres or disproportion in fibre sizes. It is concluded that the motor unit is capable of developing normally without suprasegmental influence, but that an abnormal balance of descending impulses may alter histochemical differentiation of fetal muscle. The small ‘subcorticospinal’ pathways arising in the brainstem probably are more influential than the larger corticospinal tract because of later myelination in the latter. The muscle biopsy thus serves to provide evidence of suprasegmental disease in infantile hypotonia.
Akinetic Mutism and Parkinsonism Associated with Obstructive Hydrocephalus
Authors: Berger L. , Gauthier S. , Leblanc R. 
Published: July 2016

ABSTRACT:We report the case of a patient with idiopathic aqueductal stenosis and hydrocephalus who had several episodes of akinetic mutism, each preceded by shunt malfunction, that resolved with shunt revision. She also developed a parkinson’s syndrome resistant to shunt revision but responsive to antiparkinsonian medications. The Parkinson’s syndrome and the episodes of akinetic mutism may be related to a reduction of dopaminergic input to the striatum and to the cingulate and frontal cortex brought about or worsened by ventricular dilatation.
Pseudoarylsulfatase-A Deficiency in the Neurologically Impaired Patient
Authors: Farrell Kevin , Applegarth D.A. , Toone J.R. , McLeod P.M. , Savage A.V. 
Published: July 2016

ABSTRACT:The demonstration of low arylsulfatase-A (ASA) activity in leucocytes or fibroblasts is used often to establish the diagnosis of metachromatic leucodystrophy (MLD). However, low ASA activity is observed also in pseudo-ASA deficiency which may be as common as MLD. We report two patients with pseudo ASA deficiency who had abnormal neurological findings consistent with atypical MLD. Because the measurement of ASA activity is neither a sensitive nor specific method with which to establish a diagnosis of MLD, this diagnosis should be confirmed by nerve biopsy, measurement of urinary sulfatide or a cerebroside sulfate loading test, using cultured fibroblasts.
Corneal Reflex in Hemisphere Disease II
Authors: Ross R. T. , Johnston J. A. 
Published: July 2016

SummaryIn man, contralateral cerebral decortication or removal of a hemisphere does not permanently abolish the corneal reflex. Destruction of the contralateral thalamus or contralateral mesencephalic trigeminal tract does abolish the corneal reflex.In the cat however, the corneal reflex remains intact after contralateral decortication, he mi sphere ctomy and total ablation of the thalamus. Some of these procedures diminished the corneal reflex or increased the threshold, but neither of these changes were seen for more than a few days post-operativ ely. In this animal however, the second reflex response, evoked by supra orbital nerve stimulation, is abolished by certain thalamic lesions and by contralateral hemi-transection of the brain stem at various levels.
The Treatment of Narcolepsy-Cataplexy with Nocturnal Gamma-Hydroxybutyrate
Authors: Broughton Roger , Mamelak Mortimer 
Published: July 2016

SummarySixteen patients with narcolepsy and cataplexy were treated with gamma-hydroxybutyrate (GHB) given at night and tailored to achieve as continuous a night's sleep as possible. The dosage usually consisted of 1.5-2.25 gm orally at bedtime and then one or two further 1.0-1.5 gm doses with awakenings during the night, and totaled about 50 mg /kg. Apart from one patient who took only the bedtime dose, the subjective quality of night sleep improved in all patients and the number of irresistable daytime attacks of sleep and cataplexy substantially diminished. Some residual daytime drowsiness remained and this usually responded well to low doses of methylphenidate. Improvement has been maintained for up to 20 months without the development of tolerance. Two patients experienced adverse side effects necessitating withdrawal of GHB treatment, but no serious toxic effects have occurred.