Neuropsychiatric symptoms in dementia-frequency, relationship to dementia severity and comparison in Alzheimer's disease, vascular dementia and frontotemporal dementia.

Noncognitive behavioral and psychiatric disturbances are common in dementia and help in the clinical differentiation of the various subtypes. We studied the frequency of neuropsychiatric disturbances, their relationship to dementia severity and compared these disturbances in Alzheimer's disease (AD), vascular dementia (VaD) and frontotemporal dementia (FTD) using the 12-item Neuropsychiatric Inventory (NPI). A total of 98 patients (AD-44, VaD-31, FTD-23) were evaluated. All subjects were community dwelling at the time of evaluation. The three groups were comparable on global dementia severity and functional ability. All patients had clinically significant scores on the NPI with apathy, irritability and agitation being very common (>90% of patients). AD and VaD patients in Clinical Dementia Rating (CDR) stage 2 had significantly higher scores on the total NPI, agitation and disinhibition subscales compared to those in CDR stage 1. Mean scores in the domains of aberrant motor behavior, disinhibition and appetite/eating behavior differentiated FTD from AD and VaD. Neuropsychiatric disturbances in dementia appear to be universal with agitation, disinhibition and irritability being more frequent in the later stages. In this cohort disinhibition, aberrant motor behavior and appetite/eating disturbances could reliably differentiate AD and VaD from FTD. There were no significant differences between the neuropsychiatric profiles of AD and VaD.

Familial monomelic amyotrophy: a case report from India.

Monomelic amyotrophy (MMA) is a benign lower motor neuron disorder in the young with male preponderance. It is characterized by insidious onset and progressive weakness and wasting of a distal extremity over a few years followed by spontaneous arrest. The exact pathogenesis is unknown. It is predominantly a sporadic disorder but rarely familial forms have been documented. In this report, we describe the phenotype of a 21-year-old man and his mother who were diagnosed to have MMA. The index case presented with left upper limb weakness and wasting of 3 years duration while his mother had right upper limb amyotrophy and weakness of 34 years. A total of 190 patients were diagnosed to have MMA in our institute over the last 27 years and this is the first case of familial MMA.

The prevalence of frontotemporal dementia.

OBJECTIVE: To estimate the prevalence of frontotemporal dementia (FTD) and other degenerative early-onset dementias in a geographically defined population. BACKGROUND: Early-onset dementia (at age <65 years) results in high psychiatric morbidity and caregiver burden. Prevalence figures are available for early-onset AD but not for FTD, a dementia that is almost invariably of early onset. METHODS: Case ascertainment was by review of case records of three specialist clinic databases and inpatient admissions at a university hospital in Cambridge, United Kingdom, for patients with dementia who were <65 years of age, living in Cambridge City or East or South Cambridgeshire (population 326,019) on May 30, 2000. All the relevant health services in the area were also contacted for potential cases. Diagnosis of various dementias was based on published criteria. All patients with potential FTD were examined by the study investigators and underwent structural neuroimaging. The 1998 population estimates for the area were used to calculate age and sex prevalence with confidence intervals for AD, FTD, and other causes of dementia. RESULTS: A total of 108 patients (66 men and 42 women) with dementia with onset before they were 65 years of age were identified, of whom 60 were <65 years on the census date, giving an overall prevalence of 81 (95% CI, 62.8 to 104.5) per 100,000 in the 45- to 64-year age group. The prevalences of early-onset FTD and AD were the same: 15 per 100,000 (8.4 to 27.0) in the 45- to 64-year-old population. The mean age at onset of FTD was 52.8 years and there was a striking male preponderance (14:3). It is possible case ascertainment methods resulted in a relative underrepresentation of some forms of dementia. CONCLUSIONS: Frontotemporal dementia is a more common cause of early-onset dementia than previously recognized and appears to be more common in men.

Pure word deafness in two patients with subcortical lesions.

We report two patients with pure word deafness (PWD) with tumour in the III ventricle region with obstructive hydrocephalus. A diagnosis of PWD was made in these two patients in view of impaired verbal comprehension in the presence of adequate hearing, intact acoustic stapedius reflex and well preserved environmental sound perception. Return of verbal comprehension following the radiation therapy observed is probably due to the reduction of the tumour mass and the release of thalamocortical auditory pathways from its compressive effect. Our findings support the hypothesis of the presence of discrete auditory pathways for mediation of verbal and non-verbal stimuli independently.

Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?

Giant axonal neuropathy (GAN) and infantile neuroaxonal dystrophy (INAD) are two progressive neurodegenerative disorders of childhood that have considerable clinical as well as histological overlap but are believed to be ultrastructurally distinct. The clinicopathological and ultrastructural features of three cases of INAD, two of whom are siblings and one case of GAN are described. The sural nerve biopsies in all four cases were essentially similar on light microscopy revealing giant axons. On electron microscopy, the findings in the case of GAN were typical with dense accumulation of neurofilaments within the giant axons. In the three cases of INAD, too, in addition to accumulation of mitochondria and organelles with vesiculotubular profiles, a similar increase in neurofilaments was evident. We, therefore, believe that these two disorders may represent a spectrum in evolution of intermediate filament pathology with various organelles participating in the temporal evolution of the disease process.

Sarcoidosis with primary neurological involvement.

Neurosarcoidosis is rare, accounting for less than 5 percent of all cases of sarcoidosis. We report a case of neurosarcoidosis presenting with neuropsychiatric features and meningitis, confirmed by meningeal biopsy. The difficulties encountered in establishing the diagnosis and treatment are highlighted.