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The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.

A series of 24 consecutive PD patients were prospectively studied prior to and within 6 months postoperatively for mood, motor, and cognitive status to investigate the effects on mood of subthalamic deep brain stimulation (DBS) in PD. In six patients (25%), mood state worsened significantly, and three were transiently suicidal despite clear motor improvement. Caregivers and patients should be educated about the potential impact of this neurosurgical procedure on mood.

Intoxication with various psychotropic agents, including lithium, tricyclics, and neuroleptics, may occasionally mimic aspects of Creutzfeldt–Jakob disease (CJD). Here we describe a case of chronic carbamazepine toxicity exhibiting virtually all clinical, EEG, and biologic features of typical sporadic CJD. A 71-year-old patient, treated for high blood pressure, myocardial infarct, and chronic atrial fibrillation, developed a left trigeminal neuralgia which, after being initially responsive to low doses of carbamazepine, became rapidly refractory despite dosage of 1,200 mg daily. Alcohol infiltration of Gasser’s ganglion produced only marginal and transient benefit. Four months after carbamazepine initiation, he developed a progressive cognitive decline characterized by memory deficits, confusion, psychomotor slowness, hypersomnia, dysphasia, and postural instability with falls. All symptoms evolved at a rapid pace into severe abulia and dependency in most activities of daily living. On neurologic examination, he was disoriented and exhibited marked generalized bradykinesia, hypomimia, rigidity with cogwheeling, and bilateral and synchronous myoclonus on a background of a low amplitude postural …

The effects of subthalamic nucleus deep brain stimulation were studied in 52 consecutive patients (13 over age 70, 15 under age 60, 24 age 60 to 70). All groups had improvement of motor fluctuations and dyskinesia. Patients over age 70 had worsening of Unified Parkinson's Disease Rating Scale motor scores on medication, despite less medication reduction. Their activities of daily living and axial subscores worsened, particularly in those with preoperative gait difficulties.

Objective: To determine the usefulness of the 14-3-3 test in patients with dementia of various causes. Background: Recent reports have suggested that the detection of the 14-3-3 protein in the CSF of patients with Creutzfeldt–Jakob disease is a highly sensitive and specific marker of the disease that might be used as a diagnostic criterion. We examined the validity of this test when applied to a cohort of unselected patients prospectively examined for an ongoing dementing process. Methods: One hundred patients underwent an extensive neurologic examination for dementia, including a CSF 14-3-3 protein immunoblotting assay. Final clinical diagnoses were compared with the qualitative results of the test, and statistical measures of test validity were carried out. Results: We found a positive test in 14 of 100 patients, only two of whom had definite Creutzfeldt–Jakob disease. Positive results were found in patients with various degenerative dementias, including AD (4), frontotemporal dementia (2), and dementia with Lewy body (1), and in patients with vascular dementia (1), carcinomatous meningitis (1), and anoxic encephalopathy (1). In two other positive patients, the dementia could not be confidently classified. Sensitivity, specificity, and negative predictive value were fairly good, but positive predictive value was poor. Similar results were found independently of the disease duration. There was no correlation between intensity nor pattern of the 14-3-3 protein expression and diagnosis. Conclusions: The 14-3-3 test is not valid for discriminating between Creutzfeldt–Jakob disease and non-Creutzfeldt–Jakob disease in unselected patients with dementia. Positive results are found in various degenerative and secondary, prion-unrelated dementias.