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At least 577 records · Page 32Linked to original sources
PubMed1995

Computed tomography--but not magnetic resonance imaging--identified periventricular white-matter lesions predict symptomatic cerebrovascular disease in probable Alzheimer's disease.

OBJECTIVE: To examine the clinical consequences of periventricular white-matter lesions on computed tomography (CT) and magnetic resonance imaging (MRI) scans in probable Alzheimer's disease. DESIGN: Case series, 12-month follow-up. SETTING: Multidisciplinary behavioral neurology research clinic. PATIENTS: We longitudinally evaluated the clinical characteristics of 27 patients with probable AD for whom both CT and MRI scans had been performed at baseline. INTERVENTIONS: None. MAIN OUTCOME MEASURE: The presence of abnormal neurological signs was examined at baseline and at a 12-month examination. RESULTS: Periventricular white-matter lesions were observed with CT in 12 patients (44%) and with MRI in 21 patients (78%). Computed tomography did not detect lesions of 1 to 3 mm, as were seen on MRI scans, and CT also did not detect lesions of 4 to 10 mm when they occurred in the deep subcortical white matter and were not part of a greater confluent lesion. There was no relationship between the severity of periventricular white-matter lesions with either neuroimaging method and the presence of abnormal neurological signs. However, there was a greater frequency of periventricular white-matter lesions shown on CT scans than on MRI scans at baseline in patients in whom abnormal neurological signs (eg, abnormal gait, asymmetric deep tendon reflexes, focal motor deficits, abnormal plantar response) developed at 12-month follow-up. CONCLUSION: Although MRI may be more sensitive in detecting periventricular white-matter lesions, CT is more specific in predicting subsequent symptomatic cerebrovascular disease.

Aged↗
PubMed2000

Nitrous oxide anesthesia-associated myelopathy.

BACKGROUND: The role of nitrous oxide exposure in neurologic complications of subclinical cobalamin deficiency has been reported, but few cases are well documented. OBSERVATION: Two weeks after surgery for prosthetic adenoma, a 69-year-old man developed ascending paresthesia of the limbs, severe ataxia of gait, tactile sensory loss on the 4 limbs and trunk, and absent tendon reflexes. After a second surgical intervention, the patient became confused. Four months after onset, the patient had paraplegia, severe weakness of the upper limbs, cutaneous anesthesia sparing the head, and confusion. Moderate macrocytosis, low serum B12 levels, and a positive Schilling test result led to the diagnosis of pernicious anemia. Results of electrophysiologic examinations showed a diffuse demyelinating neuropathy. Magnetic resonance imaging of the spinal cord disclosed hyperintensities of the dorsal columns on T2-weighted images. CONCLUSIONS: Pernicious anemia can result in severe neurologic symptoms with only mild hematologic changes. The role of nitrous oxide anesthesia in revealing subclinical B12 deficiency must be emphazised. Magnetic resonance imaging of the spinal cord might be helpful in making the diagnosis.

Adenoma↗
PubMed2001

Inclusion body myositis mimicking motor neuron disease.

OBJECTIVE: To describe the clinical and electrophysiologic features of patients with inclusion body myositis that was misinterpreted as motor neuron disease. PATIENTS AND METHODS: We retrospectively retrieved the medical records of 70 patients with a pathologic diagnosis of inclusion body myositis. From this group, we selected those who had been first diagnosed as having motor neuron disease or amyotrophic lateral sclerosis. We reviewed the clinical, electrophysiologic, laboratory, and morphologic studies. RESULTS: Nine (13%) of 70 patients with inclusion body myositis had been diagnosed as having motor neuron disease. Six of the 9 patients had asymmetric weakness; in 4 the distal arm muscles were affected. Eight patients had finger flexor weakness. Tendon reflexes were preserved in weak limbs in 6, hyperactive in 2, and absent in 1. Four patients had dysphagia. Fasciculation was seen in 2 patients. None had definite upper motor neuron signs or muscle cramps. Routine electromyographic studies showed fibrillation potentials and positive sharp waves in all 9. Fasciculation potentials were seen in 7 and long-duration polyphasic motor unit potentials were seen in 8. There was no evidence of a myogenic disorder in these 9 patients. Muscle biopsy was done because of slow progression or prominent weakness of the finger flexors and was diagnostic of inclusion body myositis. A quantitative electromyogram was myopathic in 4 of the 5 patients studied. CONCLUSIONS: Inclusion body myositis may mimic motor neuron disease. Muscle biopsy and quantitative electromyographic analysis are indicated in patients with atypical motor neuron disease, especially those with slow progression or early and disproportionate weakness of the finger flexors.

Aged↗
PubMed2001

Nonpoliovirus poliomyelitis simulating Guillain-Barré syndrome.

BACKGROUND: Paralytic poliomyelitis due to the wild-type poliovirus has been eradicated in the United States because of effective immunization programs. In the postvaccination era, most cases are caused by other RNA viruses, such as coxsackievirus or echovirus. The condition usually begins with a fever and upper respiratory tract or gastrointestinal tract symptoms that progress to a "paralytic" phase characterized by limb weakness, areflexia, and, occasionally, respiratory failure that superficially resemble Guillain-Barré syndrome. OBJECTIVE: To describe 2 patients with nonpoliovirus poliomyelitis and highlight the findings on magnetic resonance imaging of the spinal cord to distinguish these cases from variants of Guillain-Barré syndrome. DESIGN AND SETTING: Case series from an academic medical center. PATIENTS: Following a viral illness, the patients, aged 35 and 50 years, had painless, progressive, asymmetrical weakness in the arms followed by respiratory failure in one patient, and generalized limb weakness in the other patient, reaching a nadir in 1 week. Both patients had fevers but no signs of meningitis at onset. Tendon reflexes were absent or reduced in affected regions. The cerebrospinal fluid findings were as follows: mononuclear leukocyte counts of 100 000 cells/mm(3) and 700 000 cells/mm(3), respectively, and the protein level was above 10 g/dL in both patients. Compound muscle action potential amplitudes were reduced in some nerves with active denervation in clinically affected muscles, and F-responses were absent but there were no other demyelinating features. Magnetic resonance imaging showed discrete T2-weighted signal changes of the ventral horns of the spinal cord, and one had elevated coxsackievirus titers in the serum. There was little recovery and significant atrophy in weak muscles after 3 years. CONCLUSIONS: The poliomyelitis syndrome still occurs in adults in developed countries. It has superficial similarities to a motor axonal variant of Guillain-Barré syndrome but can be distinguished by clinical, cerebrospinal fluid, and, perhaps specifically, magnetic resonance imaging characteristics.

Adult↗
PubMed2003

Polymyositis masquerading as motor neuron disease.

BACKGROUND: Several conditions have been reported to mimic motor neuron disease (MND), and misdiagnosis remains a common clinical problem. OBJECTIVE: To report a case of bulbar-onset polymyositis where the initial clinical presentation was suggestive of MND. CASE DESCRIPTION: A 73-year-old woman was admitted for investigation of acute-onset dysphagia without dysarthria. Examination revealed nasal dysphonia and severe oropharyngeal weakness. Subtle upper-limb weakness, brisk tendon reflexes, and fasciculations in the right deltoid muscle were also demonstrated. A clinical diagnosis of MND was entertained. The serum creatine kinase value was within the reference range. Findings from electromyographic studies, however, were suggestive of a myopathic rather than a neurodegenerative process, and a muscle biopsy specimen was diagnostic of polymyositis. The dysphagia rapidly resolved upon treatment with corticosteroids and azathioprine. CONCLUSIONS: Bulbar-onset polymyositis may mimic MND, particularly in the absence of inflammatory markers or elevated muscle enzyme levels. Caution should be exercised in the clinical diagnosis of bulbar dysfunction, and further investigations such as electromyography and muscle biopsy are indicated to confirm the diagnosis.

Adrenal Cortex Hormones↗
PubMed2004

Was the ataxia of Pierre Marie Machado-Joseph disease?: A reappraisal based on the last autopsy case from la Salpêtrière Hospital.

Nosological placement of l'hérédo-ataxie cérébelleuse de Pierre Marie (HAC) has never been established even after several autopsy cases from the original Haudebourg family had been reported. To reappraise the clinical and pathological features of HAC in the current framework of hereditary ataxias, we screened the autopsy records of la Salpêtrière hospital and identified a patient with a diagnosis of HAC who underwent an autopsy in 1943. Clinical features included heredity compatible with autosomal dominant inheritance, spasticity, increased tendon reflexes, mask-like face, visual impairment, nuclear ophthalmoparesis, and exophthalmos in addition to progressive ataxia. Pathological lesions included the spinal cord (spinocerebellar tracts, anterolateral fascicles, and posterior column), cerebellar dentate nucleus, pontine nucleus, pallidum, motor neurons including the oculomotor nucleus, and substantia nigra. The cerebellar cortex and inferior olives were preserved. These clinical and pathological features, similar to those described in patients from the Haudebourg family, a core prototype of HAC, are indistinguishable from those of Machado-Joseph disease. It would then be possible to conclude that some of the patients historically considered to have HAC would today be classified as having Machado-Joseph disease.

Adult↗
PubMed1975

Phencyclidine. Nine cases of poisoning.

In nine cases of phencyclidine hydrochloride poisoning, early signs of overdose included drowsiness, nystagmus, miotic pupils, blood pressure elevation, increased deep tendon reflexes, ataxia, anxiety, and agitation. In more severe cases, seizures, spasticity, and opisthotonos were seen in addition to deep coma and respiratory depression. Treatment included removal by emetics or lavage, hydration, and a quiet, reassuring environment. Spasticity, agitation, and ocular manifestions responded to diazepam. Psychiatric intervention was instituted after the patients were stable and no longer agitated.

Adolescent↗
PubMed1996

Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.

The gene for Friedreich ataxia (FRDA), an autosomal-recessive neurodegenerative disease, remains elusive. The current candidate region of about 150 kb lies between loci FR2 and F8101 near the D9S15/D9S5 linkage group at 9q13-21.1. Linkage homogeneity between classical FRDA and a milder, slowly progressive Acadian variant (FRDA-Acad) has been demonstrated. An extended D9S15-D9S5 haplotype (C6) predominates in FRDA-Acad chromosomes from Louisiana. We studied 10 Acadian families from New Brunswick, Canada. In eight families, affected individuals conformed to the clinical description of FRDA-Acad; in one, 2 sibs presented with spastic ataxia (SPA-Acad). In the last family, 2 sibs had FRDA-Acad, and one had SPA-Acad. We found that SPA-Acad is linked to the FRDA gene region. The C6 haplotype and a second major haplotype (B7) were identified. The same ataxia-linked haplotypes segregated with both FRDA-Acad and SPA-Acad in two unrelated families. The parental origins of these haplotypes were different. Our observation of different phenotypes associated with the same combination of haplotypes may point to the influence of the parent of origin on gene expression, indicate the effect of modifier genes, or reflect the presence of different mutations on the same haplotypes. Our findings underline the need to investigate families with autosomal-recessive ataxias for linkage to the FRDA region, despite lack of key diagnostic manifestations such as cardiomyopathy or absent deep-tendon reflexes.

Canada↗
PubMed1998

Nerve lesions after therapy for childhood acute lymphoblastic leukemia.

BACKGROUND: The objective of the current study was to use somatosensory evoked potentials (SEP) to detect signs of nerve lesions in the peripheral nerve and in the central nervous system (CNS) after 3 years of treatment for childhood acute lymphoblastic leukemia (ALL). METHODS: The somatosensory potentials evoked by stimulation of the median nerve and posterior tibial nerve were recorded in 31 children with ALL after 3 years of therapy. All patients were examined clinically. The 14 standard risk patients had been treated with chemotherapy according to the Nordic regimen, and the 17 intermediate risk or high risk patients had been treated with chemotherapy and cranial irradiation according to the ALL BFM-83 protocol. RESULTS: A decrease in amplitudes was observed at the brachial plexus and spinal cord (C7) in the median SEP, and at the knee, spinal cord (Th12), and cortex in the tibial SEP, indicating axonal injury within the entire CNS in the patients with ALL compared with healthy age-, gender-, and height-matched controls. Prolongation of the SEP latencies was found within the spinal cord, indicating demyelination. These SEP changes had persisted for 2 years since the last injection/infusion of vincristine or methotrexate, which are the principal neurotoxic drugs used in chemotherapy for ALL. Clinical signs of nerve injury such as depressed deep tendon reflexes and gross or fine motor difficulties were found in approximately 33% of the patients and dysdiadochokinesia in 50%. CONCLUSIONS: Treatment of ALL in children principally with vincristine and methotrexate causes long-standing axonal injury throughout the nervous system and demyelination within the spinal cord. These changes are associated with clinical neurologic findings.

Adolescent↗
PubMed1997

GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.

Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hyperactive lower limbs reflexes with preserved H reflex. Disease progression in a patient from family 3 was very slow after onset at the age of 21. The finding of two expanded alleles in these families confirms the wide variability of the clinical spectrum of Friedreich's ataxia.

Action Potentials↗
PubMed1997

Cluster of wound botulism in California: clinical, electrophysiologic, and pathologic study.

Over a period of 15 months we have seen 6 patients with long-standing history of subcutaneous heroin injections who experienced acute blurred vision, dysphagia, dysarthria, and generalized weakness. Decreased or absent deep tendon reflexes, pupillary abnormalities, incremental responses to fast repetitive nerve stimulation, and positive serology for Clostridia botulinum toxin A were found, but not in all cases. Muscle biopsies showed variable signs of neurogenic atrophy. In vitro electrophysiology studies revealed decreased end-plate potentials quantal content, confirming the presynaptic nature of the disorder. Mechanical ventilation was required in 5 patients. Half of the patients were treated with polyvalent antitoxiin. Prognosis was favorable, though recovery was slow. In conclusion, acute bulbar weakness with visual symptoms in patients with subcutaneous heroin abuse strongly suggets the possibility of wound botulism. High diagnostic suspicion combined with histology and in vitro electrophysiology confirmation of presynaptic failure, especially in seronegative cases, may significantly improve morbidity.

Adult↗
PubMed1997

Micturitional disturbance in Wernicke's encephalopathy.

A 24-year-old pregnant woman started to have hyperemesis gravidarum 6 weeks before admission. Four weeks later she had vertigo, diplopia, staggering gait, mild dyspnea, dysphagia, and incontinence of urine. On admission she presented with ophthalmoplegia, ptosis, ataxia, decreased tendon reflex, and memory disturbance. Brain magnetic resonance imaging revealed abnormal intensities in medial thalamic-hypothalamic regions and the periaqueductal area, and she was diagnosed with Wernicke's encephalopathy. Urodynamic studies revealed decreased bladder volume and detrusor hyperreflexia. Six weeks after the administration of 100 mg/day of thiamine, urge incontinence gradually recovered, together with neurological signs. Lesions of the medial thalamic-hypothalamic area and the periaqueductal gray matter seemed to be mainly responsible for micturitional disturbance in our patient with Wernicke's encephalopathy.

Adult↗
PubMed1980

Vincristine in the etiology of toxicity of high-dose methotrexate therapy.

A 14-year-old received a six-hour infusion of methotrexate (71/2 g/M2) with vincristine (2 mg) and citrovorum rescue according to a standard protocol for adjunctive chemotherapy of osteogenic sarcoma. Signs of mild vincristine toxicity occurred from 2-5 days following the infusion; these including jaw pain, decreases in deep tendon reflexes, and a transient ileus. Clearance of serum methotrexate was delayed during the period of ileus and severe methotrexate toxicity was observed.

Adolescent↗
PubMed1981

Vindesine and prednisone for remission induction in children with acute lymphocytic leukemia.

Vinca alkaloids are effective anticancer agents. Vindesine is a recent vinca alkaloid derivative with anti-tumor effects shown in in vitro systems and in patients with acute lymphocytic leukemia (ALL). The present study was designed to investigate the therapeutic effectiveness and toxicity of vindesine in combination with prednisone for remission induction in late stage ALL in children. Sixteen children with late-stage ALL were treated with vindesine 4.0 mg/m2/week intravenously and prednisone 60 mg/m2/day orally in four divided doses for minimum of three weeks. Thirteen children were evaluable. Of these patients, four had complete remission and four had partial response. Toxicity was well tolerated and consisted of bone pain, paresthesias, loss of deep tendon reflexes, leukopenia, and thrombocytopenia primarily. Abnormal liver function tests and fever were also noted in some patients. All patients had received vincristine and prednisone prior to vindesine prednisone combination. All patients had been resistant to vincristine prednisone combination prior to vindesine prednisone treatment. This study suggests effectiveness of vindesine in late stage ALL and lack of cross-resistance of vindesine and vincristine.

Adolescent↗
PubMed2000

Clinical predominance of proximal upper limb weakness in CMT1A syndrome.

We report an Austrian family with proximal muscle weakness and wasting predominantly of the shoulder girdle musculature, normal or slightly reduced distal muscle power, mild foot deformity, absent or reduced tendon reflexes in the lower limbs, and normal or slightly diminished sensation. Electrophysiologically, motor nerve conduction velocities were slowed to less than 33 m/s, distal latencies were prolonged, and compound motor action potentials were low. Sensory nerve conduction velocities were extremely reduced or no sensory potentials were recordable. Genetic testing in three affected individuals revealed a duplication of the chromosomal region 17p11.2. In addition, genetic testing for facioscapulohumeral muscular dystrophy (FSHD) revealed a 33 kb EcoRI fragment on chromosome 4q35 in one affected individual and in the clinically normal parent, whereas in a second affected person normal DNA-sizes were observed. These clinical findings define a new phenotypic variant associated with the Charcot-Marie-Tooth 1A duplication. This may be due to a mutation in another gene contained in the 1.5 Mb duplication although mutations in the peripheral myelin protein 22 gene have been excluded. Alternatively, the genetic background of other genes in the family may modify the phenotypic expression, as found in other inherited diseases. The unusual phenotype cannot be explained by the concomitant presence of FSHD despite some evidence for coexistance in one individual.

Adult↗
PubMed2001

Clinical features of dementia associated with apolipoprotein epsilon4: discrimination with a neural network genetic algorithm.

BACKGROUND: It is unclear whether the APOE epsilon4 allele is associated with distinct clinical features in dementia. METHOD: 100 cases meeting ICD criteria for dementia were interviewed using standardized instruments and genotyped for APOE. The presence of the epsilon4 allele was used by a genetic algorithm neural network (GANN) to discriminate symptoms and signs. RESULTS: The GANN selected six features: gender, systolic blood pressure, absence of ankle tendon reflexes, history of weight loss, history of falls, and interviewer observed lability of mood. Using these features, a neural network discriminated cases according to epsilon4 highly accurately (area under receiver operating characteristic=0.83, sensitivity=0.78, specificity=0.78). CONCLUSIONS: A GANN is able to discriminate a clinically distinct group of features among dementia patients who express the epsilon4 allele.

Accidental Falls↗
PubMed1999

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Friedreich's ataxia is the most common inherited ataxia. Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remaining cases are compound heterozygotes for a GAA expansion and a frataxin point mutation. We report here the identification of 10 novel frataxin point mutations, and the detection of a previously described mutation (G130V) in two additional families. Most truncating mutations were in exon 1. All missense mutations were in the last three exons coding for the mature frataxin protein. The clinical features of 25 patients with identified frataxin point mutations were compared with those of 196 patients homozygous for the GAA expansion. A similar phenotype resulted from truncating mutations and from missense mutations in the carboxy-terminal half of mature frataxin, suggesting that they cause a comparable loss of function. In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. The incidence of optic disk pallor was higher in compound heterozygotes than in expansion homozygotes, which might correlate with a very low residual level of normal frataxin produced from the expanded allele.

Adolescent↗
PubMed1981

Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.

We report a nonprogressive neurological disorder in at least 11 Hutterites with healthy but consanguineous parents. In several of the affected, hypotonia was noted at birth. Retarded motor and mental development became apparent during the first year of life. The age of unsupported walking varied from 5-21 years. Consistent signs were unsteady, broadly based gait and stance, exaggerated deep tendon reflexes mainly in the lower limbs, and mild to moderate mental retardation. Variable signs were extensor plantar reflexes (9/11), short stature (-2SD in 8/11), strabismus (7/11), small muscle mass (6/11), mild intention tremor (3/11), cataracts (1/11), and epilepsy (1/11). CAT scans in two affected sisters showed slight enlargement of the fourth ventricle in one and hypoplasia of the cerebellum in both. The disorder is probably the same as that described earlier under the heading, dysequilibrium syndrome.

Adolescent↗