Primary brain lymphoma presenting as Parkinson's disease.

Neoplasm is an uncommon cause of a parkinsonian syndrome. We report a woman with primary brain B-cell lymphoma presenting as Parkinson's disease. After 1 year of the illness, CT and MRI showed lesions without mass effect in the basal ganglia and corpus callosum. The patient did not respond to levodopa and right cerebellar and brain-stem signs appeared, which prompted further neuroimaging, showing an increase in size of the lesions and a right cerebellar and pontine mass. Stereotactic biopsy of the basal ganglia showed high-grade B-cell lymphoma. Despite the basal ganglia frequently being involved in lymphoma of the brain, presentation with typical or atypical parkinsonism is exceptional.

Association of the HLA-A2 allele with an earlier age of onset of Alzheimer's disease.

INTRODUCTION: The HLA-A2 allele has recently been considered as a risk factor in AD by advancing the age at onset of the disease, especially in subjects who were homozygous for the apoE epsilon4 allele. MATERIAL AND METHODS: We examined the distribution of apoE genotypes and A2 allele as a function of age at onset in 109 patients with sporadic and familial AD. RESULTS: In the early onset (< or =60 years) and late onset (>75 years) AD groups, there was, respectively, a 2.2 year and a 2.7 year earlier onset in the A2 positive cases. Age effect was not apparent in the middle onset (61-75 years) AD group. The effect of A2 allele on the age at onset was not different between familial and sporadic AD cases. The presence or absence of the A2 allele did not modify mean age at onset in the groups homozygous and heterozygous for epsilon4, and in cases with no epsilon4 alleles. CONCLUSION: Though the sample size was small, there is a trend in favor of an A2 effect on age at onset. Additionally, there is no evidence of interaction between A2 and apoE epsilon4 alleles on age at onset of AD.

Gender effect on apolipoprotein E epsilon4 allele-associated risk for sporadic Alzheimer's disease.

INTRODUCTION: The role of gender in Alzheimer's disease (AD), and its possible interaction with apolipoprotein E (apoE), has been controversial. MATERIAL AND METHODS: ApoE allelic frequencies and the effect of apoE epsilon4 allele dosage on risk and age at onset of AD were evaluated, separately for men and women, in 100 patients with sporadic AD and 100 age-matched controls. RESULTS: The distribution of apoE alleles and the odds ratio for AD, when associated with 1 or 2 epsilon4 alleles, were not statistically different between men and women. No effect of the dosage of the epsilon4 allele was found on the age at onset of dementia in the 2 sex groups. CONCLUSION: Our data suggest that the relation of the apoE genotype to AD is not dependent on sex.

Etiologic study of stroke in 95 young adults.

The aim of this prospective study was to determine the etiologic factors leading to stroke in a group of young adults. We studied 95 patients aged 50 years or under who were admitted with the diagnosis of stroke over a 2-year period. These patients underwent complete clinical and laboratory assessment for stroke. The etiology was established in 73 (76.8%) out of 95 cases. Arterial hypertension, embolism and atherosclerosis were found to be the most frequent causes in patients with ischemic stroke, whereas hypertension and aneurysm rupture were the most prevailing etiologies in patients with hemorrhagic stroke. Miscellaneous causes represented one fourth of all cases of the series. Coagulation abnormalities occurred in some patients, but in these cases there were also other well established causes. Paradoxical embolism was not observed. This study corroborates the importance of thorough diagnostic evaluation to establish an accurate diagnosis.

[Distribution of headache by diagnosis as the reason for neurologic consultation]. / Distribución por diagnósticos del dolor de cabeza como motivo de consulta neurológica.

BACKGROUND: The aim of this study was to analyze the diagnostic distribution of patients consulting because of headache in a neurology department. METHODS: The clinical records of 3,498 patients who had consulted specifically due to headache between 1978 to 1993 were retrospectively studied. Diagnosis was reclassified according to the criteria of the new headache classification with data concerning the age of onset and sex distribution also being collected. RESULTS: The most frequent diagnoses were migraine (1,802 patients; 52%) tension-type headache (113; 32%), followed in decreasing order by trigeminal neuralgia, post injury headache, cluster headache, subarachnoid hemorrhage, analgesic-ergotamine abuse headache, tumoral headache, cervical disease headache, benign exertional headache, due to paranasal sinusal disorders and benign intracranial hypertension. Female predominance was observed in the whole series (68%) as in the groups with migraine, tension-type headache, neuralgia headache by analgesic-ergotamine drugs and benign intracranial hypertension. Cluster, post injury, tumor and provoked headaches (cough, exertional and sexual) were found to be more frequent in men. The age of onset was very specific for each kind of headache. The percentage of symptomatic headaches increased in direct relation to age, being 10 fold higher in patients over the age of 65. CONCLUSIONS: The diagnostic distribution of headache as a cause of medical consultation is very different to the prevalence of different headaches. This distribution by diagnosis largely depends on the age of the patient at the time of headaches onset [corrected].

A prospective study of stroke in young adults in Cantabria, Spain.

BACKGROUND AND PURPOSE: The aim of this study was to determine the incidence, type, and prognosis of stroke in young adults in Cantabria, Spain. METHODS: We investigated prospectively all patients aged 50 years or below who were admitted with the diagnosis of a stroke to the University Hospital "Marqués de Valdecilla" from April 1, 1986, to March 31, 1988. This is the main hospital of the region to which all patients with neurological problems are referred. These patients underwent a complete clinical and laboratory assessment for stroke and had 1-year mean follow-up. RESULTS: The total series included 81 patients. The annual age-specific crude incidence rates of stroke were 17.3 and 10.4 per 100,000 for males and females, respectively. Twenty-four patients (30%) were diagnosed as having nonembolic cerebral infarction, 14 (17%) embolic cerebral infarction, 20 (25%) subarachnoid hemorrhage, 22 (27%) spontaneous cerebral hemorrhage, and one case (1%) cerebral venous thrombosis. Eighteen patients (22%) died within 30 days of the cerebrovascular event, and two others died during the follow-up period. Seventy-nine percent of the survivors recovered and were completely self-sufficient. CONCLUSIONS: The incidence of stroke in the young found in Cantabria is comparable with that in previous studies. The initial hospital mortality was not negligible, but the prognosis among the survivors was favorable.

Friedreich's ataxia presenting with pure sensory ataxia: a long-term follow-up study of two patients.

We describe two patients with Friedreich's ataxia whose presenting symptomatology was for years progressive tabetic ataxia. Based upon the initial clinical, electrophysiological and nerve biopsy data, a diagnosis of idiopathic sensory neuropathy was established. Subsequent examination of the kin showed that three sisters of case 1 had Friedreich's ataxia. Upon serial clinical and electrocardiographic study, both patients eventually developed a florid Friedreich's ataxia, including cardiomyopathy. Our findings indicate that at onset Friedreich's ataxia may be indistinguishable from sensory neuropathy and also that serial examination and investigation of kinship are essential steps for accurate diagnosis.

Presynaptic parkinsonism in olivopontocerebellar atrophy: clinical, pathological, and neurochemical evidence.

The substrate for olivopontocerebellar atrophy parkinsonism is obscure due to the lack of clinical and pathological reports and the absence of studies on dopamine receptors in this entity. We describe a patient with olivopontocerebellar atrophy whose clinical presentation was levodopa-responsive parkinsonism in whom pathological examination disclosed pronounced nigral cell loss with no striatal damage. Autoradiographic labeling with 3H-spiperone showed normal densities of D2 dopamine striatal receptors. These data show that indistinguishable nigral, presynaptic parkinsonism occurs in patients with idiopathic Parkinson's disease and in patients with olivopontocerebellar atrophy, and also how a favorable response to levodopa is neither synonymous with idiopathic Parkinson's disease, nor does it exclude multiple-system, atrophy-related parkinsonism.

Prevalence of primary Sjögren's syndrome in patients with multiple sclerosis.

Sixty-four consecutive patients with clinically or laboratory-supported definite multiple sclerosis (MS) were evaluated prospectively for evidence of primary Sjögren's syndrome (SS). This diagnosis was established when a patient had objective keratoconjunctivitis sicca, xerostomia, or both together with positive labial salivary gland biopsy. We found 2 patients (3.1%) with clinical evidence of primary SS. Whether this association is fortuitous or whether there is pathogenetic linkage between MS and primary SS remains to be established.

Congenital giant pigmented nevus and intracranial arteriovenous malformation.

We describe a case with congenital giant pigmented nevus and intracranial arteriovenous malformation. This association should be included in the spectrum of neurocutaneous syndromes related to congenital giant pigmented nevus.

The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I.

One hundred and thirty two individuals at risk for hereditary motor and sensory neuropathy (HMSN) type I from 11 unrelated families were evaluated by physical examination. Motor conduction velocity (MCV) studies of median and/or peroneal nerves were performed on 99 of them. Seventy-three subjects were found to be affected. In all age categories including the first decade of life, the ratio of affected individuals at risk did not significantly differ from the expected 1:1 ratio; that is, penetrance of the gene was complete. The majority of affected members in the first decade had no clinical features considered diagnostic of peroneal muscular atrophy syndrome, and full clinical expression developed in the second decade. Marked slowing of MCV was already present in the early years of life, even as young as 6 months. Moreover serial MCV studies carried out throughout the first year of life in an affected girl showed no physiological increase in conduction velocity. For purposes of genetic counseling, our experience suggests that, starting from 6 months of age, a clinically and electrophysiologically normal subject has a zero risk of having inherited the HMSN type I gene. However given the limited numbers in this series, infants at risk with normal clinical evaluation and MCVs should be followed up yearly up to 5 years of age.

Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome.

An inbred family is described in which three sibs have congenital glaucoma and two of them also have an ataxia indistinguishable from Friedreich's ataxia. The association between these two disorders has not previously been reported. The genetic mechanisms of this association are discussed.

CT findings in spinocerebellar degeneration.

Thirty-five CT scans were studied from patients with several forms of spinocerebellar degeneration. Atrophy was determined by objective measurements of the number and width of cerebellar sulci, transverse diameter and surface area of the fourth ventricle, brainstem ratio, cerebellopontine angle cistern, and Evans' index. Two-thirds of the patients with Friedreich's ataxia showed moderate cerebellar atrophy and an increase in the surface area of the fourth ventricle. Severe cerebellar atrophy and enlargement of the cerebellopontine angle cistern was seen in patients with olivopontocerebellar (OPC) atrophy and idiopathic cortical cerebellar atrophy. In the OPC atrophy group there was also prominent atrophy of the brainstem and an increase in the fourth ventricle parameters. Alcoholic cerebellar degeneration showed a specific pattern of cerebellar atrophy most prominent in the superior vermis, together with a slight increase in the fourth ventricle surface, a reduction in the size of the brainstem, and an enlargement of the cerebellopontine angle cistern. Supratentorial atrophy was present only in the OPC and alcoholic atrophy groups. In one patient with spastic ataxia, CT was normal but MR imaging revealed prominent atrophy of the spinal cord. These CT patterns appear to be distinctive enough to permit the diagnosis and classification of the various forms of spinocerebellar degeneration.

Lumbosacral plexopathy due to dermoid cyst of the greater omentum.

We describe the case of a 66 year old woman with a lumbosacral plexopathy secondary to the compression produced by a dermoid cyst of the omentum, a complication not previously reported.