ABSTRACT
Alzheimer's disease is a major public health concern, affecting an estimated 40 million people worldwide. Over the past few years, several new diagnostic tests and new diagnostic nomenclatures have emerged, and more than 70 disease-modifying agents are in clinical trials. Naturalistic studies that include biomarkers-such as genomics, metabolomics, and imaging-have yielded additional insights into disease mechanisms and timelines of preclinical disease onset. This article reviews recent developments in epidemiology, diagnostic criteria, and diagnostic tests; provides updates on symptomatic therapies, ongoing prevention trials, and neuropsychiatric symptom treatment options; and ends with a discussion on prospects for a cure.
ABSTRACT
BACKGROUND: Caregiver burden is a significant issue in the treatment of dementia and a known contributor to institutionalization of patients with dementia. Published data have documented increased caregiver burden in behavioral variant frontotemporal dementia (bvFTD) compared to Alzheimer's disease (AD). Another atypical dementia with high-perceived caregiver burden is sporadic Creutzfeldt-Jakob disease (sCJD), but no formal studies have assessed this perception. The aim of this study was to compare caregiver burden across atypical dementia etiologies. METHODS: 76 adults with atypical dementia (young-onset AD [YOAD], bvFTD, language variant FTD [lvFTD], and sCJD) were administered an abbreviated version of the Zarit Burden Interview (ZBI), Neuropsychiatric Inventory (NPI-Q), and other assessment instruments during a five-year time period at Johns Hopkins Hospital (JHH). A Cox regression model examined differences between disease categories that impact mean ZBI scores. RESULTS: Mean ZBI scores were significantly different between dementia etiologies, with bvFTD and sCJD having the highest caregiver burden (p = 0.026). Mean NPI-Q caregiver distress scores were highest in bvFTD and sCJD (p = 0.002), with sCJD and bvFTD also having the highest number of endorsed symptom domains (p = 0.012). On regression analyses, an interactive variable combining final diagnosis category and NPI-Q total severity score demonstrated statistically significant differences in mean ZBI scores for sCJD and bvFTD. CONCLUSIONS: This study demonstrates that bvFTD and sCJD have increased levels of caregiver burden, NPI-Q caregiver distress, total severity scores, and number of endorsed symptom domains. These results suggest that higher caregiver burden in bvFTD and sCJD are disease specific and possibly related to neuropsychiatric symptoms.
Subject(s)
Adaptation, Psychological , Alzheimer Disease/nursing , Caregivers/psychology , Cost of Illness , Creutzfeldt-Jakob Syndrome/nursing , Frontotemporal Dementia/nursing , Stress, Psychological/etiology , Activities of Daily Living , Adult , Aged , Aged, 80 and over , Alzheimer Disease/psychology , Creutzfeldt-Jakob Syndrome/psychology , Female , Frontotemporal Dementia/psychology , Humans , Male , Middle Aged , Neuropsychological Tests , Personality Inventory , Psychiatric Status Rating Scales , Regression Analysis , Severity of Illness IndexABSTRACT
IMPORTANCE: To describe the first case of preimplantation genetic diagnosis (PGD) and in vitro fertilization (IVF) performed for the prevention of genetic prion disease in the children of a 27-year-old asymptomatic woman with a family history of Gerstmann-Sträussler-Sheinker syndrome (GSS). OBSERVATIONS: PGD and fertilization cycles resulted in detection of 6 F198S mutation-free embryos. Of these, 2 were selected for embryo transfer to the patient's uterus, yielding a clinical twin pregnancy and birth of healthy but slightly premature offspring with normal development at age 27 months. CONCLUSION AND RELEVANCE: IVF with PGD is a viable option for couples who wish to avoid passing the disease to their offspring. Neurologists should be aware of PGD to be able to better consult at-risk families on their reproductive choices.
