Late-onset frontotemporal dementia associated with progressive supranuclear palsy/argyrophilic grain disease/Alzheimer's disease pathology.

Progressive supranuclear palsy (PSP) is typically manifested by vertical supranuclear gaze palsy, frequent falls early in the disease course, axial rigidity and poor response to levodopa. Prominent anterograde memory dysfunction with subsequent impairment in other cognitive domains is characteristic of Alzheimer's disease (AD). No clear clinical syndrome has been identified in argyrophilic grain disease (AGD).

The effect of tau genotype on clinical features in FTDP-17.

The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism.

Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.

The objective of this study is to better define the pathological characteristics of pathologically proven progressive supranuclear palsy (PSP) presenting with the corticobasal syndrome (CBS). PSP is characterized by early falls, vertical supranuclear ophthalmoplegia, and axial rigidity, whereas asymmetric limb features, including rigidity, bradykinesia, apraxia, alien limb phenomena, and cortical sensory loss are characteristic of CBS. We investigated clinicopathological characteristics of 5 cases of PSP that presented with CBS (CBS-PSP).

MRI correlates of alien leg-like phenomenon in corticobasal degeneration.

We describe the clinical and neuroradiologic correlates in two patients with the clinical picture of CBD and alien leg phenomena. The MRI brain scan in both had unique focal abnormalities in the corresponding leg area of the homunculus that may be the substrate for the alien limb features.

Antemortem diagnosis of frontotemporal lobar degeneration.

The objective of this article is to study the accuracy of antemortem clinical diagnoses of frontotemporal lobar degenerations (FTLDs). From brain autopsies performed on subjects enrolled in the Mayo Alzheimer Center between 1991 and 2003, cases with neuropathological diagnoses of FTLD were identified. Neuropathological diagnoses of FTLDs were based on consensus criteria for FTLD.

DWI predicts future progression to Alzheimer disease in amnestic mild cognitive impairment.

The authors assessed whether measures of hippocampal water diffusivity at baseline can predict future progression to Alzheimer disease (AD) in amnestic mild cognitive impairment (aMCI). Higher baseline hippocampal diffusivity was associated with a greater risk of progression to AD in aMCI (p = 0.002).

Involvement of medullary regions controlling sympathetic output in Lewy body disease.

We sought to determine the involvement of medullary regions controlling sympathetic output in pathologically confirmed diffuse Lewy body disease (LBD). We studied eight limbic or neocortical stage LBD and eight multiple system atrophy (MSA) cases, confirmed neuropathologically, and eight age-matched controls. Five of the LBD cases and all MSA cases had orthostatic hypotension.

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.

The background to this study began with the reporting of two Japanese kindreds with the S305N tau mutation. Although the pathological findings in the autopsied cases were well characterized, only limited ante-mortem data were presented. In this study, longitudinal characterization was carried out in two siblings of European ancestry found to have frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) through comprehensive neurobehavioural examinations and other scales at approximate 6-month intervals.

Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.

Background: Slowly progressive asymmetric parkinsonism and cortical dysfunction clinically characterize corticobasal syndrome (CBS). Various pathologic findings, including corticobasal degeneration (CBD), progressive supranuclear palsy, and frontotemporal degenerations, underlie CBS.

Objective: To determine if regional cortical and corpus callosum atrophy and subcortical and periventricular white matter (SPWM) signal changes on head magnetic resonance imaging were specific to CBD.

1H MR spectroscopy in common dementias.

Objective: To determine the 1H MR spectroscopic (MRS) findings and intergroup differences among common dementias: Alzheimer disease (AD), vascular dementia (VaD), dementia with Lewy bodies (DLB), and frontotemporal lobar degeneration (FTLD).

Methods: The authors consecutively recruited 206 normal elderly subjects and 121 patients with AD, 41 with FTLD, 20 with DLB, and 8 with VaD. The 1H MRS metabolite ratio changes in common dementias were evaluated with respect to normal and also differences among the common dementias.

Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy.

Objective: To examine the clinical, genetic, and neuropathologic features of posterior cortical atrophy (PCA).

Design/methods: Using a broad definition of PCA as a syndrome with the insidious onset of visual dysfunction in the absence of primary ophthalmologic causes, the authors identified and then reviewed the presenting signs and symptoms, ApoE genotypes, tau haplotypes, and neuropathologic findings when available of PCA cases from two dementia research centers collected over the past 14 years.

Results: The authors identified 40 PCA cases.

Confrontation naming does not add incremental diagnostic utility in MCI and Alzheimer's disease.

As the incidence of dementia increases, there is a growing need to determine the diagnostic utility of specific neuropsychological tests in the early diagnosis of Alzheimer's disease (AD). In this study, the relative utility of Boston Naming Test (BNT) in the diagnosis of AD was examined and compared to the diagnostic utility of other neuropsychological measures commonly used in the evaluation of AD. Individuals with AD (n = 306), Mild Cognitive Impairment (MCI; n = 67), and cognitively normal subjects (n = 409) with at least 2 annual evaluations were included.

REM sleep behavior disorder in Parkinson's disease and dementia with Lewy bodies.

Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia manifested by vivid, often frightening dreams associated with simple or complex motor behavior during REM sleep. Patients appear to "act out their dreams," in which the exhibited behaviors mirror the content of the dreams. Management of RBD involves counseling about safety measures in the sleep environment; in those at risk for injury, clonazepam and/or melatonin is usually effective.

De novo genesis of neuropsychiatric symptoms in mild cognitive impairment (MCI).

Background: There is inadequate information regarding the neuropsychiatric aspect of Mild Cognitive Impairment (MCI).

Objective: To determine the neuropsychiatric profile of MCI, and compare this with normal controls and patients with mild Alzheimer's Disease (AD).

Design: Cross-sectional assessment of psychiatric symptoms in subjects that are enrolled in Mayo Clinic's longitudinal study of normal aging, MCI and dementia.

Autonomic dysfunction in dementia with Lewy bodies.

Objective: To assess autonomic function in patients with dementia with Lewy bodies (DLB).

Methods: The authors compared data from 20 DLB patients evaluated from 1995 to 2000 to 20 age-matched multiple system atrophy (MSA) and Parkinson disease (PD) patients evaluated from 1999 to 2002. Analysis of variance, Fisher exact test, and Student t-test were applied to compare disease characteristics, autonomic symptoms, and function tests on the Composite Autonomic Scoring Scale (CASS) and Thermoregulatory Sweat Test (TST).

Potentially reversible autoimmune limbic encephalitis with neuronal potassium channel antibody.

Objectives: To describe the clinical features and coexisting serum autoantibodies in seven patients with encephalitis associated with autoantibodies to alpha-dendrotoxin-sensitive voltage-gated potassium channels (VGKCs), and to compare this disorder with other autoimmune encephalopathies.

Methods: Clinical information was obtained from a retrospective review of medical records and telephone interviews. All autoantibody testing was performed in a single laboratory.

Comparison of different MRI brain atrophy rate measures with clinical disease progression in AD.

Objective: To correlate different methods of measuring rates of brain atrophy from serial MRI with corresponding clinical change in normal elderly subjects, patients with mild cognitive impairment (MCI), and patients with probable Alzheimer disease (AD).

Methods: One hundred sixty subjects were recruited from the Mayo Clinic Alzheimer's Disease Research Center and Alzheimer's Disease Patient Registry Studies. At baseline, 55 subjects were cognitively normal, 41 met criteria for MCI, and 64 met criteria for AD.

DLB fluctuations: specific features that reliably differentiate DLB from AD and normal aging.

Objective: To determine whether certain aspects of fluctuations reliably distinguish dementia with Lewy bodies (DLB) from Alzheimer's disease (AD) and normal aging.

Methods: Participants included 200 community-dwelling cognitively normal elderly persons, 70 DLB patients, and 70 AD patients with collateral informants. A 19-item questionnaire was administered to the informants that queried about symptoms of fluctuations and delirium.

Comparison of the short test of mental status and the mini-mental state examination in mild cognitive impairment.

Background: The Mini-Mental State Examination (MMSE) is the most widely used brief screening measure of cognition, but it is not sensitive in detecting mild memory or other cognitive impairments. The Short Test of Mental Status (STMS) was specifically developed for use in dementia assessment and was intended to be more sensitive to problems of learning and mental agility that may be seen in mild cognitive impairment (MCI).

Objective: To compare the STMS and MMSE for detecting or predicting MCI.

Neuropathology of cognitively normal elderly.

Despite general agreement about the boundaries of Alzheimer disease (AD), establishing a maximum limit for Alzheimer-type pathology in cognitively intact individuals might aid in defining more precisely the point at which Alzheimer pathology becomes clinically relevant. In this study, we examined the neuropathological changes in the brains of 39 longitudinally followed. cognitively normal elderly individuals (24 women, 15 men; age range 74-95, median 85 years).

Melatonin for treatment of REM sleep behavior disorder in neurologic disorders: results in 14 patients.

Objective: To describe the treatment response with melatonin for rapid eye movement (REM) sleep behavior disorder (RBD) associated with other neurologic disorders.

Background: Clonazepam has been considered the treatment of choice for RBD. However, an alternative treatment is desirable for those with RBD refractory to clonazepam, for those who experience intolerable side-effects with clonazepam, and for those in whom clonazepam precipitates or aggravates obstructive sleep apnea (OSA).

Hypocretin (orexin) and melatonin values in a narcoleptic-like sleep disorder after pinealectomy.

Narcolepsy secondary to other neurologic processes has been recently associated with hypocretin (orexin) deficiency. We present a patient who developed a narcoleptic-like sleep disorder after receiving treatment for a choroid plexus carcinoma of the pineal gland. She underwent a pinealectomy, chemotherapy, and radiation treatment.

Pathologically confirmed corticobasal degeneration presenting with visuospatial dysfunction.

Corticobasal degeneration (CBD) typically manifests as progressive asymmetric rigidity and apraxia, although other non-motor presentations have been reported. We report two patients with pathologically diagnosed CBD who presented with prominent visuospatial dysfunction. The pathological changes were maximal in the visual association cortices, but absent in 31 cases of pathologically proven CBD with more typical antemortem features.