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PubMed2003

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.

Charcot-Marie-Tooth disease type 1B (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. Here we report a Costa Rican family with a hereditary peripheral neuropathy due to a novel Tyr145Ser MPZ mutation. Four family members were heterozygously affected; two siblings of two heterozygous carriers were homozygous for this mutation. On neurological examination the heterozygous parents and their homozygous children both showed distal sensory deficits. The mother and the siblings displayed impaired deep tendon reflexes and mild sensory ataxia. The homozygous individuals were more severely affected with an earlier age of onset, distal motor weakness, and pupillary abnormalities. Electrophysiological studies revealed both signs of demyelination and axonal nerve degeneration. The sural nerve biopsy of one sibling showed thinly myelinated nerve fibers, onion bulb formation, and clusters of regenerating fibers. On electron microscopy axonal degeneration and decompaction of inner myelin layers were found. This Costa Rican family shows phenotypic variability depending on the homozygous or heterozygous state of the Tyr145Ser mutation carriers.

Charcot-Marie-Tooth Disease↗

PubMed2006

Friedreich's ataxia: clinical heterogeneity in two sisters.

Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA.

Adult↗

PubMed2006

A case of recurrent Miller Fisher syndrome mimicking botulism.

Miller Fisher syndrome (MFS) is a rare and usually monophasic polyradiculoneuropathy characterised by ophthalmoplegia, decreased or absent tendon reflexes, and ataxia. The objective of this study was to report a case of recurrent MFS with a clinical presentation virtually indistinguishable from botulism. The patient was a young man with two episodes of increasing external ophthalmoplegia, ptosis, and ataxia with a long asymptomatic interval in between. The second episode occurred after consumption of rotten fish and was accompanied by gastrointestinal symptoms and an anticholinergic syndrome. Very rarely, MFS can present with a recurrent course. The importance of this case of recurrent MFS lies not only in its long asymptomatic period and identical clinical presentation, but also in its instructiveness regarding the differential diagnosis of MFS, particularly life-threatening botulism.

Acute Disease↗

PubMed2005

S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy.

S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger brother has the same two mutations in the gene encoding AdoHcy hydrolase, and has been monitored since birth. We report, as well, outcomes during therapy for both patients. The information obtained suggests that the disease starts in utero and is characterized primarily by neuromuscular symptomatology (hypotonia, sluggishness, psychomotor delay, absent tendon reflexes, delayed myelination). The laboratory abnormalities are markedly increased creatine kinase and elevated aminotransferases, as well as specific amino acid aberrations that pinpoint the aetiology. The latter include, most importantly, markedly elevated plasma AdoHcy. Plasma S-adenosylmethionine (AdoMet) is also elevated, as is methionine (although the hypermethioninaemia may be absent or nonsignificant in the first weeks of life). The disease seems to be at least to some extent treatable, as shown by improved myelination and psychomotor development during dietary methionine restriction and supplementation with creatine and phosphatidylcholine.

Adenosylhomocysteinase↗

PubMed2006

Successful heart failure therapy in mitochondrial disorder with noncompaction cardiomyopathy.

OBJECTIVE: Effective heart failure therapy with angiotensin-converting enzyme inhibitors and beta-blockers in a patient with mitochondrial disorder and asymptomatic previously stable hypertrophic cardiomyopathy and left ventricular noncompaction (NCCMP) has not been reported. CASE REPORT: In a 58-year-old male with juvenile seizures, impaired hearing, recurrent pancreatitis, diabetes, recurrent emesis and diarrhea, discrete weakness for hip flexion, general wasting, and reduced tendon reflexes, elevated muscle-enzymes, abnormal lactate-stress-test, and mitochondrial dysfunction on muscle biopsy, mitochondrial disorder was diagnosed at age 51 year. Echocardiography revealed myocardial thickening and NCCMP. Cardiac abnormalities did not progress upon repeated follow-ups. At age 57 year he developed acute heart failure during respiratory infection. Echocardiography additionally revealed reduced left ventricular systolic function, and a restrictive filling pattern. Within seven weeks of therapy with ramipril (2.5 mg/day) and bisoprolol (1.25 mg/day) the restrictive filling pattern disappeared and fractional shortening normalized. CONCLUSION: This case shows that heart failure in a patient with mitochondrial disorder and previously stable hypertrophic cardiomyopathy and NCCMP promptly resolves under therapy with angiotensin-converting enzyme inhibitors and beta-blockers.

Adrenergic beta-Antagonists↗

PubMed2006

Carbamazepine for prevention of oxaliplatin-related neurotoxicity in patients with advanced colorectal cancer: final results of a randomised, controlled, multicenter phase II study.

BACKGROUND: Oxaliplatin-induced neurotoxicity is a growing, relevant clinical problem. In this study we evaluated the efficacy and safety of carbamazepine for prevention of oxaliplatin-associated neuropathy in patients with advanced colorectal cancer. METHODS: Chemotherapeutic treatment consisted of oxaliplatin 85 mg/m(2) given biweekly and weekly folinic acid 500 mg/m(2) followed by a 24-h infusion of 5-FU 2000 mg/m(2) (FUFOX). One cycle consisted of six consecutive weeks of treatment followed by two weeks of rest (=Treatment B). For Treatment A carbamazepine was added in a dosage for targeted plasma levels of 4-6 mg/L. Neurotoxicity was regularly assessed using a specific scale. Moreover, an evaluation of chronic sensory symptoms and a neurologic examination including tests for vibrational sense, strength and deep tendon reflexes were added creating a peripheral neuropathy (PNP) score. RESULTS: The prospectively defined adequate number of patients needed to provide power for the primary outcome could not be achieved. 19 patients were assigned to Treatment A and 17 to Treatment B. At baseline, the distribution of all clinicopathologic variables was comparable between the two groups. Overall response rates were 16% and 24% and overall survival 15.1 months and 17.4 months for Treatment A and Treatment B, respectively. Between Treatment A and Treatment B there were no major differences when considering worst neurotoxicity during the study period (p=0.46). Grade 3/4 neurotoxicity occured in 4 patients with Treatment A vs. 6 patients with Treatment B. There were no major differences between both groups in each category of the PNP score. CONCLUSIONS: Based on the small number of patients and low statistical power of our study definite conclusions regarding efficacy and safety of carbamazepine for prevention of oxaliplatin-associated neuropathy in patients with advanced colorectal cancer cannot be drawn.

Adult↗

PubMed1975

Magnesium deficiency and cardiac disorders.

Magnesium deficiency can occur in congestive heart failure, after diuresis with furoxemide, ethacrynic acid and mercurials, and with digitalis intoxication, diabetic acidosis, acute and chronic alcoholism, delerium tremens, cirrhosis, malabsorption syndromes, protracted postoperative cases, open heart surgery, the diuretic phase of acute tubular necrosis, and with hypoparathyroidism, primary aldosteronism, juxta-glomerular hyperplasia and pancreatitis. Two cases of serious ventricular arrhythmias associated with magnesium depletion are described. Clinical manifestations are vague but center around neurologic symptoms such as weakness, tremors, stupor, coma, nausea, vomiting and anorexia. Serious cardiac arrhythmias also occur with magnesium depletion. Magnesium appears to be very useful in hypomagnesemic or digitalis-toxic tachyarrhythmias. Magnesium may also be valuable in normomagnesemic tachyarrhythmias. Ten to fifteen milliliters of a 20 percent magnesium sulfate solution, given intravenously over 1 minute, followed by a slow 4 to 6 hour infusion of 500 ml of 2 per cent magnesium sulfate in 5 per cent dextrose in water is recommended. Recurrence of arrhythmias is common and a second infusion of magnesium sulfate may be necessary. Hypermagnesemia occurs frequently in renal insufficiency, and magnesium therapy may then be contraindicated. Serum levels above 5.5 meq/liter should be avoided. Loss of deep tendon reflexes and a decrease in respiratory rate can be used as guides to magnesium therapy. A plea is made for frequent analysis of serum magnesium so that more knowledge can be gained regarding this important biologic element in cardiovascular disorders.

Alcoholism↗

PubMed1981

Hypothyroidism presenting as muscle stiffness and pseudohypertrophy: Hoffmann's syndrome.

There is a spectrum of muscular abnormalities that occurs in patients with hypothyroidism. Alterations in deep tendon reflexes are commonly observed although more extensive muscle disease is less frequently seen. Two patients who demonstrated increased muscle mass, muscle stiffness with variable degrees of muscle weakness and low levels of serum thyroxine (Hoffmann's syndrome) are described. At the time of presentation, the serum creatinine phosphokinase level was more than 10 times greater than normal, and electromyography revealed repetitive positive waves. After therapy with thyroid hormone, there was complete resolution of the muscle abnormalities, and laboratory studies were performed. In this report, we review the clinical syndrome of muscle dysfunction that can be seen with the more severe forms of hypothyroid myopathy.

Female↗

PubMed1978

Muscle reaction to passive shortening in normal man.

We have studied in 32 healthy subjects the EMG activity of biceps and triceps brachii, wrist flexors and wrist extensors, triceps surae and tibialis anterior, sterno-cleido-mastoideus (SCM) and splenius, during their passive shortening. A shortening reaction was observed more frequently in wrist extensors, SCM and tibialis anterior than in biceps and triceps brachii. The response appeared only when the joint reached a specific angle regardless of the starting point or the speed used to reach this position. During a muscle ischaemia which abolished the tendon reflex the reaction was not modified. During a joint ischaemia produced distal to the examined muscle its amplitude was strongly reduced. Our results support the hypothesis that joint receptors could play a role in its origin, perhaps through a long-loop reflex.

Adult↗

PubMed1991

Correlative electrophysiological and behavioral evaluation following L5 lesions in the cat: a model of spasticity.

The present work developed an animal model of hindlimb spasticity by analyzing the electrophysiological and behavioral consequences of L5 spinal cord lesions in cats. In chronically lesioned animals (1 to 6 months), the L7-S1 dorsal roots were stimulated and evoked potentials were recorded from hindlimb flexor and extensor motor nerves. Following lateral hemisection, the monosynaptic responses were 2-5 times larger (for voltage-time integral and for amplitude) on the ipsilateral side than those from the contralateral side or from control animals. Half-widths, rise-times, and latencies of the monosynaptic responses were the same on both sides. Behavioral signs of spasticity, including hypertonia and increased deep tendon reflexes, were displayed from the ipsilateral hindlimb following lateral hemisection. With lateral hemisection or with extensive dorsal quadrant lesions, hopping and proprioceptive placing reflexes were abolished; these behavioral observations impart functional significance to physiological and anatomical studies of a mid-lumbar center considered to be important for movement control. The present model represents the first demonstration of a statistically significant correlation between electrophysiological and behavioral observations of spasticity for animals with a lateral hemisection. These correlations demonstrate the utility of behavioral screening of animals for subsequent neurophysiological analyses. This facilitates the investigation of cellular events underlying spasticity and of strategies for its relief with tissue repair techniques affecting local circuitry involved in spasticity.

Animals↗

PubMed1976

Maternal and postnatal hypermagnesemia and the meconium plug syndrome.

Thirty dated pregnant Srague-Dawley rats received IM MgSO4 (750 mg/kg/ X 5 days) until birth. Fifteen untreated pregnant Sprague-Dawley rats of similar gestation served as controls. A total of 453 rats were born. Ninety neonates (two from each of 45 liters) were randomly removed before suckling, sacrificed, and the water content of the meconium and serum magnesium determined. The remaining 363 bewborn rats were observed for delayed passage of meconium or abdominal distention. Hypermagnesemic (6.3 +/- 0.5 mg/100 ml) neonates had neither abdominal distention nor delayed passage of meconium. The water content of meconium in hypermagnesemic rats (84.7 +/- 4.2% and in untreated controls (85.5 +/- 3.8%) were statistically similar. Dated pregnant mongrel dogs were given magnesium sulfate by continuous intravenous infusion and by bolus intravenous injection. The water content of meconium, transit time, and basic electrical rhythm (BER) of treated neonates were similar to untreated neonatal controls. The water content of meconium, transit time, and BER of neonatal dogs made hypermagnesemic (12.0 +/- 1.2 mg/100 ml) in the postnatal period were similar tp untreated neonatal controls. In adult and newborn pupies, receiving a continuous intravenous magnesium sulfate infusion, deep tendon reflexes ceased at serum magnesium levels of 9.0-10.0 mg/100 ml, spontaneous respiration at 14.0-15.0 mg/100 ml, and BER was suppressed (transiently) at 20.0-25.0 mg/10 ml. These data suggest that high (sublethal) doses of MgSO4 in pregnant and newborn animals have little effect on BER, meconium transit time or water content of the neonates. No correlation between MgSO4 treatment and the meconium plug syndrome was observed in the experiments.

Animals↗

PubMed1977

Myopathy with hyperaldosteronism. An electron-microscopic study.

In the case reported, an overproduction of aldosterone was accompanied by paretic attacks, a decrease in the serum potassium level, and in muscle tone and the deep tendon reflexes. The decrease of serum potassium level was consistent, but moderate, being to just below the normal lower limit. Loading with carbohydrate produced an attack, forearm ischaemic exercise resulted in less lactic acid production than normally. In the limb-girdle muscles there was also evidence of slight but permanent weakness. The results of histological and ultrastructural examination of a muscle biopsy are reported. It seems probable that the disturbance in the mineralo-corticoid metabolism led periodically to a decrease in the serum potassium, while in some muscle fibres the glycogen content increased and the SR became dilated and partially destroyed. In the attack-free periods tubular aggregates were produced, supposedly through an attempt at regeneration of the SR. During attacks portions of the muscle fibres were destroyed irreversibly and in consequence moderate permanent weakness resulted. Some spheromembranous degradation products which were observed might be regarded as remnants of degenerated tubular aggregates.

Adult↗

PubMed1977

The Landry-Guillain-barré syndrome. Complications, prognosis and natural history in 123 cases.

One hundred and twenty-three patients, 68 males and 55 females in whom acute polyradiculitis Guillain-Barré appeared at an age of between 1,6 and 76 years were re-examined after 0.9 to 12.3 years. The initial symptoms, the signs during the acute phase, in particular the cranial nerve signs and central nervous signs, as well as findings in the cerebrospinal fluid and complications are described. Three patients died during the acute phase. At follow-up only 57% of the patients were completely cured. In 22% motor signs, mainly distal in the lower extremities were found. Only 6 of these patients however were handicapped. Twenty-two patients had loss of one or more tendon reflexes, in general the ankle jerk. Only 6 showed very slight central nervous system signs. Eleven of 55 follow-up cases had pathological findings in needle electromyography. A disturbance of conduction velocity or distal latency was also found in several adults and children without residual clinical signs. The time span between the maximum of the initial signs and the beginning of recovery seemed to be particularly long in patients who showed residual signs on follow-up. These patients also seemed frequently to have had a severe tetraparesis in the initial phase. We could not confirm the therapeutic effect of cortisone or ACTH in our patients: amongst the 30 adults treated with cortisone 6 (20%) had residual signs at follow-up, whilst 5 (25%) of the 22 untreated ones had similar findings.

Acute Disease↗

PubMed1977

Hypobetalipoproteinemia with abnormal prebetalipoprotein.

A 47-year-old man who had cerebellar ataxia and low plasma lipid and lipoprotein levels is reported. His tendon reflexes were hyperactive and the plantar responses were extensor. There was no acanthocytosis. Total lipids (380 mg/dl), total cholesterol (106 mg/dl), esterified cholesterol (74 mg/dl), triglyceride (58 mg/dl), phospholipids (124 mg/dl) and free fatty acids (303 muequiv./l) were generally decreased. A disturbance of lipid absorption due to a defect of chylomicron formation and hepatic steatosis were also disclosed. On lipoprotein electrophoresis, prebetalipoprotein was very faint and migrated more slowly than normal. Betalipoprotein and alphalipoprotein were moderately reduced in concentration but migrated normally. The concentration of isolated VLDL was only one-tenth of that in normal subjects and it migrated as slow prebetalipoprotein. Although the lipid composition of VLDL was similar to that of normal VLDL, the lack of minor components was disclosed by SDS-PAG electrophoresis. Incorporation of [1-14C]acetate into VLDL lipids was significantly reduced to a greater extent than that of LDL and HDL. From these findings, we discuss the possibility that hypobetalipoproteinemia results from impaired VLDL synthesis.

Abetalipoproteinemia↗

PubMed1979

Acute ischaemic neuropathy in the rabbit.

Ligation of either the common and internal iliac or the internal and external iliac arteries produced ischaemic lesions of the sciatic nerve and its branches, as well as direct muscle damage, in 5 out of 6 rabbits. In one animal, ligation of the aorta and of the internal iliac artery on one side produced a similar mixture of nerve and muscle damage on the side of the double ligation. Ligation of the femoral artery alone in 3 animals failed to produce significant changes. In the 6 affected animals there was paralysis of the hind leg on the side of the iliac ligations, with loss of tendon reflexes. Appreciation of pinprick over the foot and lower leg also appeared to be impaired. Complete ischaemic necrosis with irreversible damage to both neural and connective tissue elements did not occur in the main nerve trunks, but was present in some of the intramuscular nerve bundles as part of generalized coagulative necrosis of the most severely affected muscles. The characteristic pathological changes in the nerve fibres of the main nerve trunks were Wallerin degeneration and paranodal demyelination, the former being more extensive than the latter. In the animals with double iliac ligations, the upper level of ischaemic nerve damage was in the thigh, the tibial portion of the sciatic nerve being more commonly affected than the peroneal. Nerve and muscle damage tended to occur at different levels in the limb, but there was no example of clinical paresis due to neural damage without any ischaemic muscle changes being present. In two of the 3 animals in which the plantar muscles were examined, these muscles appeared to escape direct damage in spite of ischaemic lesions in the more proximal parts of the limb.

Acute Disease↗

PubMed1980

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature.

A description is given of 34 patients with the distal form of hereditary spinal muscular atrophy. This disorder constitutes one form of "peroneal muscular atrophy". It resembles types I and II hereditary motor and sensory neuropathy but differs from them in displaying less upper limb weakness, relative preservation of the tendon reflexes and an entirely normal clinical sensory examination. Motor nerve conduction velocity and sensory nerve action potentials are normal. Previous reports of this disorder are reviewed and compared with the present series.

Adolescent↗

PubMed1981

Unusual presentation of Charcot Marie-Tooth disease-incoordination with absent of minimal wasting-Report of 2 cases.

Two patients are reported presenting with incoordination mimicking cerebellar disease in the upper and lower limbs, ataxia of gait, absent tendon reflexes and little or no clinically detectable wasting. Motor conduction velocity in the upper limbs was substantially reduced in one patient whereas it was normal and slightly reduced in the other. It is concluded that in Charcot-Marie Tooth disease incoordination may mimic cerebellar disease and when this is so it is due to the association of varying degrees of proprioceptive deafferentation and a dyskinesia similar to that produced by familial (essential) tremor.

Adolescent↗

PubMed1982

Hypothyroid polyneuropathy. Clinical, electrophysiological and nerve biopsy findings in two cases.

Two patients in whom polyneuropathy was associated with hypothyroidism have been studied clinically and electrophysiologically. Sural nerve biopsy was performed on both patients and the nerve studied by light and electron microscopy. Both patients had symptoms of paraesthesiae and muscle pain and there was distal weakness, sensory impairment and incoordination in both upper and lower limbs. Gait was impaired and tendon reflexes were depressed. Electrophysiological studies demonstrated moderate slowing of motor conduction velocity and absent sensory potentials. Microscopic studies of the sural nerves revealed a loss of myelinated fibers of all diameters but particularly those of large diameter. On teased fibre examination, the predominant abnormality was axonal degeneration and electron microscopy showed degenerating fibres, prominent cluster formations, abnormalities of mitochondria and prominent glycogen deposits within Schwann cells. Quantitative study of unmyelinated fibres indicated a relative increase in fibres of small diameter. It is concluded that the polyneuropathy associated with hypothyroidism is due largely to axonal degeneration.

Adult↗