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J Neurol Neurosurg Psychiatry 2003;74:1412-1416 Background: Most cases of Creutzfeldt-Jakob disease (CJD) in recipients of human cadaveric growth hormone present with a cerebellar syndrome. Dementia is thought to occur late [...]

Objectives: To determine whether patients presenting with a first transient ischaemic attack (TIA) subsequently show increased rates of brain atrophy compared with age matched controls; and to assess potential risk [...]

While the majority of dementias are sporadic, many diseases causing dementia can also occur on a familial basis. Some of these show an autosomal or sex linked inheritance, In others, [...]

Byline: E.K. Warrington (1), S.K. Agnew (1), A.M. Kennedy (1), M.N. Rossor (1) Keywords: Key words Neuropsychology; Familial Alzheimer's disease Abstract: Patients with familial Alzheimer's disease and a subset known to have presenilin mutations were compared with sporadic cases on a comprehensive battery of cognitive tests. These included measures of memory, intelligence, language and perception. The three group were very comparable, in terms of severity, on global measures of dementia. However, their profiles/patterns of cognitive impairment differed in two respects the group with sporadic Alzheimer's disease were significantly more impaired on tests of object naming and object perception than either the group with familial Alzheimer's disease or group with familial Alzheimer's disease and presenilin mutations, yet they scored at a significantly higher level on the measure of verbal intelligence. This study provides further evidence of the heterogeneity of the disease process. Author Affiliation: (1) Dementia Research Group, Department of Clinical Neurology, Institute of Neurology, Queen Square, London, WC1 3BG, UK, Tel.: +44-20-78 37 36 11, ext 36 39, Fax: +44-20-72 09 01 82, GB Article note: Received: 25 April 2000 / Received in revised form: 26 June 2000 / Accepted: 14 July 2000

The majority of cases of Alzheimer's disease (AD) occur sporadically. However, there are some families in which Alzheimer's disease seems to be passed from generation to generation as an inherited trait. Although these cases of familial Alzheimer's disease (FAD) constitute only a small minority, they may provide important clues to the development of the disease in general. Furthermore, there has been some suggestion that even in the sporadic cases which are not, strictly speaking, inherited, there may still be a strong contribution of an individual's genetic makeup to the ultimate development of AD. A study was undertaken to explore in greater detail the mode of inheritance of FAD. Seventy affected family groups were studied, consisting of 541 affected and 1,066 unaffected offspring of parents with AD. Such studies are complicated by the fact that unaffected offspring may simply not be old enough to develop the symptoms of AD, and any investigation of the inheritance of the disorder must use statistical methods to take this possibility into account. Overall, a rate of Alzheimer's disease of 64 percent (by age 87) was observed for the children of parents with FAD. This figure is slightly higher than the 50 percent which would be expected if the disorder were randomly passed from generation to generation as a dominant trait. However, when the families were grouped by average age of onset, a different pattern emerged. By defining 'early-onset' AD as disease symptoms beginning before the age of 58, it was found that the statistics of FAD differed for early- and late-onset disease. In families with early-onset FAD, the rate among offspring of affected parents was 53 percent, very close to the theoretically expected 50 percent. In contrast, among the late-onset families, in which disease symptoms first appeared after the age of 58, the rate of disease among offspring of affected parents was 86 percent, significantly higher. These observations suggest that the early-onset disease may be inherited as a simple dominant trait, while the late-onset disease may have a more complicated mode of inheritance which is not yet understood. (Consumer Summary produced by Reliance Medical Information, Inc.)

Primitive reflexes are typically present in childhood, suppressed during normal development, and may reappear with diseases of the brain, particularly those affecting the frontal lobes. In this review we discuss [...]

Progressive supranuclear palsy (PSP) is a tau deposition neurodegenerative disorder which usually occurs in sporadic form and is associated with a common variant of the tau gene. Rare familial forms [...]

Background: Three cases of non-paraneoplastic reversible limbic encephalitis (LE) associated with voltage-gated potassium channel antibodies (VGKC-Ab) have previously been reported. We aimed to define the phenotypic features of this syndrome [...]

The New Year brings a change of editorship; after seven years of exceptional custodianship the journal says goodbye to Professor Chris Kennard. During his tenure he has maintained the key [...]

Background: Three causative genes have been identified for autosomal dominant Alzheimer's disease (AD): the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes. In addition a risk [...]

Objective: To assess altering patterns of significant regional atrophy during the progression of Alzheimer's disease (AD). Methods: Patients with presymptomatic AD (n=4), mild AD (n=10) and moderate AD (n=12) were [...]

Most cases of Creutzfeldt-Jakob disease (CJD] in recipients of human cadaveric growth hormone, present with a cerebellar syndrome. Dementia is thought to occur late and as a minor feature of [...]