Young Man With Headache, Confusion, and Hearing Loss.

A man presented with encephalopathy, hearing loss, and branch retinal artery occlusions. How would you treat the patient?

Acute thyrotoxic bulbar myopathy with encephalopathic behaviour: an uncommon complication of hyperthyroidism.

Objective. Acute thyrotoxic bulbar palsy is rare, severe, and rapidly progressive. We describe a case of thyrotoxicosis with bulbar palsy, encephalopathy, and pyramidal tract dysfunction.

Micrographia and related deficits in Parkinson's disease: a cross-sectional study.

Objectives: To determine the prevalence and clinical features associated with micrographia in Parkinson's Disease (PD).

Setting: This study was conducted at a Movement Disorders clinic located in a Veteran Administration Hospital.

Participants: PD subjects were included only if they satisfied UK Parkinson's Disease Society criteria for diagnosis.

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.

The hereditary leukodystrophies represent a group of neurological disorders, in which complete or partial dysmyelination occurs in either the central nervous system (CNS) and/or the peripheral nervous system. Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive, neurological disorder characterized by symmetrical widespread myelin loss in the CNS, and the phenotype is similar to that of chronic progressive multiple sclerosis. We report clinical, neuroradiological and neuropathological data from the originally reported ADLD family.

A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers.

Alzheimer's disease is the most common form of dementia that occurs in later years. The diagnosis is confirmed by the pathological findings of betaA4-amyloid-containing neuritic plaques and neurofibrillary tangles, the former being present in sufficient quantity commensurate with age. Other forms of dementia are more difficult to diagnose clinically; their pathology is noted for the lack of plaques and tangles.

Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia.

We describe a progressive neurologic disorder in three sisters characterized clinically by palatal myoclonus, spastic weakness, hyperreflexia, mild cerebellar dysfunction, and ocular motor abnormalities. Postmortem examination of one patient demonstrated widespread Rosenthal fiber deposition associated with demyelination. The father previously was reported to have similar pathologic findings and carried a clinical diagnosis of multiple sclerosis.

A closely linked gene to apolipoprotein E may serve as an additional risk factor for Alzheimer's disease.

The E4 allele of the apolipoprotein E (APOE) gene has been identified as a risk factor for Alzheimer's disease. Immediately downstream from the APOE gene on chromosome 19 is the gene for apolipoprotein CI (APOCI). We have found that the frequency of an APOCI restriction site is 0.

Association of apolipoprotein E but not B with Alzheimer's disease.

In our studies apolipoprotein E4 (APOE4) is associated with both early- and late-onset Alzheimer's disease. Alzheimer's patients from West Texas were screened for the APOE4 allele, which was found at frequencies of 0.43 and 0.

Apolipoprotein E and B alleles in Parkinson's patients.

Parkinson's patients were genotyped for the apolipoprotein E alleles as well as polymorphisms at the apolipoprotein B loci to determine whether they were at risk for late onset Alzheimer's disease or coronary disease. The Parkinson's patients were at no greater risk for either disease than were the control spouses. The frequency for the APOE4 allele was 11% compared with the spouses, 10%.

MR vs CT in progressive supranuclear palsy.

Nine progressive supranuclear palsy (PSP) patients were studied with computerized tomography (CT) and magnetic resonance (MR) in order to determine the efficacy of each in detecting atrophy of the brainstem. Three additional PSP patients were evaluated with MRI for quantitative (electronic) measurements of the colliculi, pons and midbrain tegmentum. Both CT and MRI were equally effective in demonstrating midbrain atrophy.

A new polymorphism in the gene for the dopamine D2 receptor.

A new polymorphism has been identified in the gene for the dopamine D2 receptor. The polymorphism was found by single-stranded conformational polymorphism (SSCP) analysis. Sequencing revealed an insertion at a BsoF1 restriction site.

Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.

Objective: To study the clinical and pathological features of a kindred with an adult-onset autosomal dominant leukodystrophy.

Patients: Five symptomatic and nine asymptomatic at-risk members of the kindred.

Interventions: Subjects underwent detailed histories and general and neurologic examinations.

Association of a monoamine oxidase B allele with Parkinson's disease.

Monoamine oxidase B (MAO-B) is implicated in the cause of Parkinson's disease (PD) because of its role in metabolizing the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine, and forming H2O2 during dopamine metabolism. Altered MAO-B activity has been observed in PD platelets. Polymerase chain reaction was used to amplify a portion of the MAO-B gene.

The middle latency auditory evoked potential may be abnormal in dementia.

The P1 potential (50 msec) of the middle latency auditory evoked potential was lacking in 12 of 31 (39%) patients with probable Alzheimer's disease and seven of 12 (58%) demented patients with Parkinson's disease. Component P1 was not present in one normal control subject and one nondemented Parkinson's disease patient. Clinical and experimental evidence suggests that abnormalities of P1 in dementia may be due to cholinergic dysfunction.

Increased glucose metabolism in the medulla of patients with palatal myoclonus.

Hypertrophic degeneration of the inferior olivary nuclei is the pathologic substrate for palatal myoclonus, but the physiologic correlate of this finding is uncertain. Using the 2-[18F]fluoro-2-deoxy-D-glucose and PET method, we determined the local cerebral metabolic rate of glucose utilization in seven patients with palatal myoclonus (following stroke or infection, or idiopathic), one patient with oculopalatal myoclonus (following a stroke affecting the brainstem), and nine normal subjects. The metabolism of glucose in the medulla of the patients with palatal myoclonus was significantly greater than that of the normal subjects.

Abnormalities in visual spatial attention in men with mirror movements associated with isolated hypogonadotropic hypogonadism.

We studied spatial attentional performance on a visually cued reaction time task in men with isolated hypogonadotropic hypogonadism. A subset of these patients, who displayed mirror movements, have spatial attentional abnormalities. They were slow to respond to targets in the right visual field and especially slow when those targets followed incorrect or diffuse cues.

Eye movement disorders in men with isolated hypogonadotropic hypogonadism.

The eye movement abnormalities in two men with isolated hypogonadotropic hypogonadism were studied clinically and electro-oculographically. Both demonstrated striking saccadic dysmetria. Subsequent neuroradiologic investigation confirmed atrophy of the cerebellar vermis in one of the patients.

Primidone/phenobarbital-induced periodic alternating nystagmus.

A 37-year-old man with a history of seizures developed periodic alternating nystagmus (PAN) along with other signs of primidone/phenobarbital toxicity. The PAN gradually diminished in cycle length and intensity, finally resolving with gradual discontinuation of the drugs.

Neurologic findings in men with isolated hypogonadotropic hypogonadism.

We studied the neurologic abnormalities in 41 men with isolated hypogonadotropic hypogonadism. Findings included anosmia, hyposmia, mirror movements, ocular motor abnormalities, cerebellar dysfunction, and pes cavus foot deformity. One-third of the subjects had a family history of delayed sexual maturation.

Computed tomography and magnetic resonance imaging in adult-onset leukodystrophy.

Five clinically affected and nine at-risk members of a kindred with an autosomal dominant adult-onset leukodystrophy simulating chronic progressive multiple sclerosis were studied with computed tomography (CT) and magnetic resonance imaging (MRI). Computed tomographic scans showed white matter lucencies occurring earliest and most prominently in the frontoparietal region. The lesions were nondiscrete, diffuse, and bilaterally symmetric.