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At least 973 records · Page 54Linked to original sources
PubMed2004

Objective tests for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS).

OBJECTIVE: To develop objective markers for upper motor neuron (UMN) involvement in ALS, the value of single-voxel MR spectroscopy (MRS) and transcranial magnetic stimulation (TMS) was studied. METHODS: Test results of 164 ALS patients who had MRS only (n = 91), TMS only (n = 13), or both (n = 60) were analyzed; also, 11 autopsy examinations were evaluated. RESULTS: Abnormal test results consistent with UMN involvement were found in 134 patients with clinical UMN signs: 86% on MRS, 77% on TMS, and 70% on MRS and TMS together. Among 30 patients with solely LMN signs (progressive muscular atrophy), UMN results were found in 63% on MRS, 63% on TMS, and 46% on both tests together. There was a significant association of the degree of abnormal N-acetyl aspartate/creatine ratios with UMN signs (p = 0.01). The sensitivity to detect UMN involvement was 0.86 for MRS (specificity 0.37) and 0.77 for TMS (specificity 0.38). At autopsy, all 11 patients had pathologic UMN abnormalities, including 4 with normal MRS and 1 with normal TMS in life. CONCLUSIONS: MRS is highly sensitive, somewhat more than TMS, and shows good correlation with clinical UMN signs. Combining MRS and TMS results in the same patient with further refinement may help in the early diagnosis of ALS.

Amyotrophic Lateral Sclerosis↗
PubMed2000

An unusual case of hyperekplexia.

Hyperekplexia is a rare paroxysmal disorder characterized by exaggerated startle response, hypertonia during infancy and a transient increase in tone following startle attacks. We report an unusual case of hyperekplexia in a young man. In addition to common symptoms of the condition, we found generalized spasticity persisting beyond infancy, and facial and skeletal dysmorphism. Because of an unsteady gait with frequent falls and raised serum creatine kinase levels, a congenital myopathy had been suspected in the past and an abnormal muscle biopsy had been documented. We diagnosed hyperekplexia at the age of 21 years on clinical grounds and following the response to pharmacological treatment. A mutation in the alpha1 subunit of the glycine receptor confirmed the diagnosis. A repeated needle muscle biopsy demonstrated mild myopathic changes, which we considered to be secondary to increased muscle tone. This case highlights the diagnostic difficulties of hyperekplexia, particularly in sporadic cases with unusual presentation.

Adult↗
PubMed1983

Lower extremity manifestations of phenylketonuria.

Phenylketonuria is an inborn error of metabolism with its most notable characteristic being that of mental retardation. The literature describing this disorder has been reviewed to identify the abnormal lower extremity findings in affected individuals. The dermatologic, osteologic, and neuromuscular systems were all found to be involved. Lower extremity physical examinations were then performed on nine phenylketonuric adults. It was determined that several of the reported manifestations of phenylketonuria were similarly evident in these individuals as well as the presence of additional lower extremity pathology not previously documented. However, the conclusion was made that all findings, past and present, were variable and that no consistent manifestation was apparent.

Adult↗
PubMed2004

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

A Czech family with three individuals carrying a novel mutation, 290 A-->T (Glu97Val), in the myelin protein zero gene (P0) is reported. The two eldest carriers developed progressive sensorineural hearing loss and abnormal pupillary reaction at age 18. These preceded the onset of the classic signs of Charcot-Marie-Tooth disease (CMT) by more than a decade. Sural nerve biopsy and nerve conduction studies were compatible with the axonal type of CMT. The authors show that progressive hearing loss can be the first symptom in P0 mutation carriers.

Adult↗
PubMed2005

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.

We report a newborn with exaggerated startle reactions and stiffness of neonatal onset, the prototypical signs of hyperekplexia. Startle and flexor spasms, leading to apnoea, did not respond to treatment with clonazepam but did partially to sodium valproate. Molecular analysis of GLRA1 revealed no mutations. The incidental finding of hypouricemia led to a work-up for molybdenum cofactor (MoCo) deficiency; the diagnosis was confirmed by the altered urine chemistries, including elevated urine S-sulphocysteine. Despite persistence of the spasms, clinical or electrographic seizures were never detected before the infant died at age 1 month. In this patient, the concurrence of hyperekplexia and MoCo deficiency was suggestive of impaired gephyrin function. GPH mutational analysis, however, showed no abnormalities. The patient was eventually found to harbour a novel c.1064T > C mutation in exon 8 of the MOCS1 gene. Despite extensive sequence analysis of the gene, the second causative mutation of this recessive trait still awaits identification. MoCo deficiency should be considered in the differential diagnosis of neonatal hyperekplexia, particularly in the instances of refractoriness to clonazepam, an early demise in infancy or the evidence of no mutations in the GLRA1 gene.

Carbon-Carbon Lyases↗
PubMed1999

[Smith-Lemli-Opitz syndrome].

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase. SLOS has been subdivided into two types on the basis of clinical severity: type I is the classic and type II is the severe one. CASE REPORT: A full term female was born from a pregnancy complicated by oligoamniosis and intra-uterine growth retardation. The neurologic status was immediately impaired with severe hypotonia, absence of reflexes, and abnormal crying. She exhibited multiple congenital anomalies with a facial dysmorphia, anomalies of members, unicornus uterus and a pyloric stenosis. Plasmatic concentration exhibited a normal cholesterolemia contrasting with an elevated level of 7 and 8 DHC. Major alimentary tract defect led to enteral and parenteral nutrition. The severe neurological defect led to death on the 16th day of life. CONCLUSION: Despite normal blood cholesterol levels that can be attributed to enteral and parenteral nutrition, the severity of clinical findings and the lethal course permit to classify this case as type II.

Adult↗
PubMed1980

Startle disease or hyperekplexia: further delineation of the syndrome.

Startle disease is an autosomal dominant disorder with two phenotypic expressions. In the major form, there is hypertonia in infancy, and later an insecure gait. The patients have falling attacks without unconsciousness and in these, they are often injured or suffer concussions. Episodes of shaking of the limbs lasting for several minutes and resembling generalized clonus or repetitive myoclonus occur. These are most often nocturnal and are also unaccompanied by loss of consciousness. the patients are hyperreflexic and show an increased incidence of associated neurological and electroencephalographic abnormalities. The minor form of startle disease is only manifested by excessive startle and this is inconstant. In infancy it is brought out by febrile illness and in adult life by emotional stress. Gastaut and Villeneuve postulated the existence of a sporadic form of hyperekplexia different from the disorder described by Suhren et al. Review of their report and comparison with the cases of Suhren et al, and our own patients leads us to believe that the sporadic and familial forms of startle disease are the same. The disorder is rare, probably misdiagnosed initially as spastic quadriplegia, and later as epilepsy. Clonazepam appears to be the treatment of choice and its effect is sustained.

Adolescent↗
PubMed2000

Neurophysiological characterization of parkinsonian syndromes.

Electrophysiological examination can provide relevant information on functional abnormalities in patients with parkinsonism. The combined use of various electrodiagnostic techniques can contribute to the diagnosis of the illness, to its correct classification and differentiation from other diseases with a clinically similar presentation, and in particular the identification of the pathophysiological processes underlying some of the signs and symptoms characterizing the movement disorder. Tests which are useful in the differential diagnosis of various parkinsonian syndromes can now be performed in most electrodiagnostic laboratories. This article reviews some of the most relevant observations provided by neurophysiological studies on patients with parkinsonism, with a special focus on those that could be of more value in neurological clinical practice through their contribution to the characterization of the disease or to the recognition of underlying pathophysiological processes.

Autonomic Nervous System↗
PubMedDate not supplied

Bilateral loss of vestibular function: clinical findings in 53 patients.

The clinical presentations and aetiologies of a series of 53 cases of bilateral vestibular failure (BVF) seen by the authors over a decade were evaluated by retrospective review of the medical records. Thirty-nine per cent of patients had associated neurological disease; 13% had a progressive cerebellar syndrome with disabling gait ataxia, abnormal eye movements and cerebellar atrophy on neuro-imaging. BVF was usually unsuspected. Nine per cent had cranial or peripheral neuropathies and in this group there was no abnormality of brain stem/cerebellar oculomotor function, but hearing loss was common. Eleven per cent revealed BVF and hearing loss secondary to meningitis, and 6% had other neurological disorders. Idiopathic BVF was found in 21% of cases, characterised by paroxysmal vertigo and/or oscillopsia, but no abnormal clinical signs. Gentamicin ototoxicity accounted for a further 17%, while autoimmune disease was present in 9% of patients. Otological or neoplastic disease was diagnosed in the remaining 13% of patients. It was concluded that neurological, audiological and ocular motor assessments allow the probable cause of BVF to be defined in approximately 80% of cases. A group of BVF related to autoimmune pathologies is reported for the first time, indicating the need for immunological screening. Idiopathic BVF may present with only minor visual or vestibular symptoms, while in patients with cerebellar degeneration, BVF may be unsuspected and, thus, underdiagnosed.

Adult↗
PubMed1995

[The detection of anti-cerebellar antibody western blot analysis in serum from a patient with Miller Fisher syndrome].

We here report a case of Miller Fisher syndrome (MFS) in which serum anti-cerebellar antibody was detected by Western blot analysis. The 32-year-old male studied suffered from diplopia, gait ataxia and sensory disturbance in the distal portion of the upper limbs preceded by cold-like symptoms. Neurological examination on admission revealed that he had external ophthalmoplegia with bilateral ptosis, cerebellar ataxia and areflexia. A cerebrospinal fluid examination showed albuminocytologic dissociation with a protein concentration of 60 mg/dl. Brain CT and MRI showed no significant abnormalities. The patient was diagnosed as MFS, and treated it with two sessions of immunoadsorption plasmapheresis (IAPP). After receiving IAPP therapy, the patient's neurological symptoms and signs were improved. Western blot analysis showed the existence of antibody directed against mouse cerebellum but not against mouse cerebrum, brain stem, and spinal cord in his serum, the level of which was decreased after the IAPP therapy. Serum anti-GQ1b antibody was also elevated. As far as we are aware, there have been no reports showing the existence of anti-cerebellar antibodies detected by Western blot analysis. Though the pathogenesis of MFS remains unclear, our findings suggest that anti-cerebellar antibody detected by Western blot analysis may be caused by cerebellar ataxia in MFS.

Adult↗
PubMed2004

Trigeminal afferent input alters the excitability of facial motoneurons in hemifacial spasm.

OBJECTIVE: To investigate whether skin or muscle afferent input via the trigeminal nerve alters the excitability of facial motoneurons in hemifacial spasm (HFS). METHODS: Botulinum toxin type A (BTX) was injected only to the orbicularis oculi (O. oculi) muscle of 21 patients with idiopathic HFS, and the excitability of the orbicularis oris (O. oris) motoneurons was monitored. The synkinetic response (SR) of the blink reflex and abnormal muscle response (AMR) were recorded from the O. oris before and after treatment. RESULTS: BTX injections produced marked to moderate improvement in the O. oculi of all 21 patients and in the O. oris of 17 (81%). The rectified areas of SR1 and SR2 were smaller after treatment. In particular, the AMR area showed a reduction (p = 0.02). CONCLUSIONS: The significant lessening of spasms in the O. oris after BTX injection to the O. oculi and the concomitant reduction in excitability of O. oris neurons are consistent with the hypothesis that in HFS, skin or muscle afferent volleys via the trigeminal nerve enhance the excitability of facial nerve motoneurons.

Action Potentials↗
PubMed2001

Hyperekplexia in neonates.

Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus. The genetic basis is a mutation usually of the arginine residue 271 leading to neuronal hyperexcitability by impairing glycinergic inhibition. Hyperekplexia is usually familial, most often autosomal dominant with complete penetrance and variable expression. It can present in fetal life as abnormal intrauterine movements, or later at any time from the neonatal period to adulthood. Early manifestations include abnormal responses to unexpected auditory, visual, and somatosensory stimuli such as sustained tonic spasm, exaggerated startle response, and fetal posture with clenched fists and anxious stare. The tonic spasms may mimic generalised tonic seizures, leading to apnoea and death. Consistent generalised flexor spasm in response to tapping of the nasal bridge (without habituation) is the clinical hallmark of hyperekplexia. Electroencephalography may show fast spikes initially during the tonic spasms, followed by slowing of background activity with eventual flattening corresponding to the phase of apnoea bradycardia and cyanosis. Electromyography shows a characteristic almost permanent muscular activity with periods of electrical quietness. Nerve conduction velocity is normal. No specific computed tomography findings have been reported yet. Clonazepam, a gamma aminobutyric acid (GABA) receptor agonist, is the treatment of choice for hypertonia and apnoeic episodes. It, however, may not influence the degree of stiffness significantly. A simple manoeuvre like forced flexion of the head and legs towards the trunk is known to be life saving when prolonged stiffness impedes respiration.

Diagnosis, Differential↗
PubMed1985

Otoneurological examination in panic disorder and agoraphobia with panic attacks: a pilot study.

A battery of vestibular and audiological tests was administered to eight patients with panic disorder and 13 patients with agoraphobia and panic attacks, all of whom experienced dizziness during their panic attacks. Positional or spontaneous nystagmus was present in 67% of the subjects. Abnormal responses were found in caloric testing (56%), rotational testing (35%), and posturography (32%). Pure tone audiograms were abnormal in 26% of the subjects and acoustic reflexes were abnormal in 44% of the subjects. Six of eight patients tested had an abnormal brainstem auditory evoked potential. The possible importance of the findings and their implications for further research are discussed.

Adult↗
PubMed1978

Electrical study of jaw and orbicularis oculi reflexes after trigeminal nerve surgery.

Trigeminal nerve ophthalmic and motor division function was assessed clinically and electrically in 32 patients who had undergone various surgical procedures for trigeminal neuralgia. Using known electrophysiological techniques, the orbicularis oculi and jaw reflexes were tested in all subjects. Abnormalities of the orbicularis oculi reflex were anticipated on the basis of ophthalmic division anaesthesia. However, jaw reflex abnormalities appeared in operated cases with no clinical or electromyographic evidence of masseter denervation. These results were unexpected, and imply that the proprioceptive fibres of the jaw reflex are mediated by a sensory and not a motor root as previously believed.

Adult↗
PubMed1997

Reduction of 0.1 Hz microcirculatory fluctuations as evidence of sympathetic dysfunction in insulin-dependent diabetes.

OBJECTIVE: Loss of spontaneous fluctuations in resting microcirculatory flow has been described in diabetes mellitus, but its mechanism remains unexplained. METHODS: The autonomic control of forearm skin microcirculation was investigated in 23 insulin-dependent diabetic human subjects (median age 39 years, range 27-50) and in 23 age-matched controls (median age 38 years, range 20-57), by laser-Doppler flowmetry. Using spectral analysis of spontaneous microvascular fluctuations, we measured the power of 0.1 Hz ('10-second rhythm') fluctuations, dependent on sympathetic control, and of respiration-related, high-frequency fluctuations, due to the transmission of mechanical chest activity. Autonomic function abnormalities were assessed by 5 tests of cardiovascular reflexes. RESULTS: Abnormalities in cardiovascular autonomic tests were present in 7/23 patients: deep breathing was abnormal 4 in patients, standing in 2, handgrip in 3, cross-correlation in 4, and Valsalva ratio in 0. The power of 0.1 Hz microcirculatory fluctuations was significantly lower in diabetic than in control subjects (2.57 +/- 0.16 vs 3.48 +/- 0.09 In-mV2, mean +/- s.e.m., P < 0.001), whereas that of respiratory fluctuations was similar (2.60 +/- 0.24 vs 2.56 +/- 0.19 In-mV2, P = n.s.). The 0.1 Hz power was 2 standard deviations below the mean of controls (P < 0.05) in 13/23 diabetic patients; this abnormality was significantly more frequent than abnormalities in any other autonomic test (P < 0.001). CONCLUSIONS: Since the observed reduction was confined to those microvascular fluctuations under autonomic control, but not to those dependent on passive mechanical transmission, the reduction in spontaneous microcirculatory vasomotion appears to be determined mainly by sympathetic dysfunction. Sympathetic impairment of skin microvascular control seems to be a common finding, and is probably an early index of autonomic dysfunction in insulin-dependent diabetes.

Adult↗