Genetic influences are thought by many to play an important role in the cause of Parkinson's disease. We studied two closely intermarried families (Family G) whose ancestors immigrated to the United States from Russia. We investigated this family clinically, genealogically, and pathologically. Our pedigree contained 102 members spanning six generations, with 10 affected individuals and 1 affected spouse. Detailed telephone interviews were conducted with affected individuals, with their spouses, and with their at-risk siblings. Medical records of deceased and living affected patients were collected. Physical examinations were performed on 7 at-risk and 5 affected persons. Typical levodopa-responsive parkinsonism with bradykinesia, rigidity, resting tremor, and impaired postural reflexes was seen in 4 members, dementia was present in 3, and 3 had both dementia and parkinsonism. An autopsy completed on 1 individual, our index case, demonstrated Lewy bodies in the brainstem and neocortex and ubiquitin-positive neuritic degeneration in the CA2-3 region of the hippocampus, consistent with the limbic (transitional) form of Lewy body disease. This family is distinct both clinically and pathologically from several previously reported parkinsonian kindreds.
OBJECTIVE: To determine whether febrile seizures cause mesial temporal sclerosis (MTS), the occurrence of MTS was evaluated in an unselected series of patients with febrile seizures. METHODS: Twenty-four patients with a prolonged first febrile seizure, 8 with an unprovoked seizure after the first febrile seizure, and 32 age-, sex-, and handedness-matched control subjects with a single simple febrile seizure without later unprovoked seizures were selected from 329 febrile seizure patients followed up prospectively. The occurrence of MTS was evaluated after a mean follow-up time of 12.3 years by MR volumetry of amygdala and hippocampal formation and qualitative analysis of mesial temporal structures. RESULTS: None of the patients had MTS. The mean total volumes of the right and left hippocampal formations and amygdala did not differ significantly between any of the three groups. The qualitative analysis revealed no sclerotic changes in the mesial temporal area. The patients with a prolonged initial febrile seizure had a lower mean right-left volume difference in hippocampal formations than the control subjects, but this had no effect on the outcome. CONCLUSION: The occurrence of MTS following even prolonged febrile seizures is an uncommon event, confirming the good clinical outcome of febrile seizures.
Comment In: Neurology. 2003 Aug 26;61(4):588; author reply 588-912939457
Comment In: Neurology. 2003 Jan 28;60(2):E1-212552071
Pre- and perinatal adversities may increase the risk for schizophrenia and bipolar disorder. Hypoxia-related obstetric complications (OCs) are associated with brain anatomical abnormalities in schizophrenia, but their association with brain anatomy variation in bipolar disorder is unknown.
Magnetic resonance imaging brain scans, clinical examinations and data from the Medical Birth Registry of Norway were obtained for 219 adults, including 79 patients with a DSM-IV diagnosis of bipolar disorder (age 29.4 years, s.d. = 11.8 years, 39% male) and 140 healthy controls (age 30.8 years, s.d. = 12.0 years, 53% male). Severe hypoxia-related OCs throughout pregnancy/birth and perinatal asphyxia were each studied in relation to a priori selected brain volumes (hippocampus, lateral ventricles and amygdala, obtained with FreeSurfer), using linear regression models covarying for age, sex, medication use and intracranial volume. Multiple comparison adjustment was applied.
Perinatal asphyxia was associated with smaller left amygdala volume (t = -2.59, p = 0.012) in bipolar disorder patients, but not in healthy controls. Patients with psychotic bipolar disorder showed distinct associations between perinatal asphyxia and smaller left amygdala volume (t = -2.69, p = 0.010), whereas patients with non-psychotic bipolar disorder showed smaller right hippocampal volumes related to both perinatal asphyxia (t = -2.60, p = 0.015) and severe OCs (t = -3.25, p = 0.003). No associations between asphyxia or severe OCs and the lateral ventricles were found.
Pre- and perinatal hypoxia-related OCs are related to brain morphometry in bipolar disorder in adulthood, with specific patterns in patients with psychotic versus non-psychotic illness.
To determine the relationship between hippocampal, amygdalar, and entorhinal cortex atrophy and duration of epilepsy, presence of secondary generalized seizures, and prolonged childhood febrile convulsions in patients with pharmacologically intractable temporal lobe epilepsy (TLE).
Volumetric MRI of the hippocampus, amygdala, and entorhinal cortex were performed in 86 consecutive patients with TLE and 44 age- and sex-matched healthy control subjects. Linear regression analysis was used to explore the relation between the volumetric measurements and the clinical parameters.
In simple regressions, duration of epilepsy but not age at seizure onset was related to hippocampal (r2 = 0.19, p