DCTN1 mutations in Perry syndrome.

Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, with brain pathology characterized by TDP-43 immunostaining. We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to intracytoplasmic inclusions. Our findings show that DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.

Pallidonigral TDP-43 pathology in Perry syndrome.

Objective: Autosomal dominant parkinsonism, hypoventilation, depression and severe weight loss (Perry syndrome) is an early-onset rapidly progressive disease. At autopsy, previous studies have found severe neuronal loss in the substantia nigra without Lewy bodies. Transactive response DNA-binding protein of 43 kDa (TDP-43) has recently been identified as a major ubiquitinated constituent of neuronal and glial inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis.

[The evolution of adult clinical neuropsychology in Paris from 1957 to 2000].

This sketchy account of the history of French-speaking clinical neuropsychology from 1957 to 2000 first recalls the Salpêtrière school leaded by Alajouanine and his disciples, and second the Ste Anne psychiatric hospital, with on one hand the Chair of Mental and Brain Diseases, and on the other hand a number of research teams gathered around disciples of Dejerine such as Jean Lhermitte. Because of the large scope of this topic, the authors could not elude the need for a bibliographic selection that may seem questionable.

[Pure amusia reavealing an ischaemic lesion of right temporal planum. Participation of the right temporal lobe in perception of music].

Amusia is the impaired perception and performance of music due to brain lesions that do not affect motor or sensory skills. Amusia is usually associated with other neuropsychological disorders. We report an exceptional case of pure amusia of sudden onset in a professional choir conductor, following right-sided temporal planum infarction revealing internal carotid occlusion.

[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)].

The authors describe three new cases of this familial form of Parkinson's disease, together with its clinical and histological particularities and pathophysiological basis.

Disorders in intentional gestural organization in Alzheimer's disease: combined or selective impairment of the conceptual and production systems?

This study examines disorders which affect the intentional gestural organization in Alzheimer's disease. An original and prospective protocol which assessed both the conceptual and production systems (with reference to the Roy and Square model 1985) was presented to 16 patients with Alzheimer's disease (mild to moderate dementia) and 40 healthy elderly subjects. Our study showed impairment of both systems in the Alzheimer's patients group.

[Function imaging of the hippocampus in Korsakoff's syndrome].

A case of alcoholic Korsakoff syndrome is reported in a 47 year-old-man. Neuropsychological examination revealed an important both anterograd and retrograd amnesia but procedural and short-term memory were not affected nor was intellectual capacity. Cerebral IRM was normal.

New questions on the hemispheric encoding/retrieval asymmetry (HERA) model assessed by divided visual-field tachistoscopy in normal subjects.

According to the hemispheric encoding/retrieval asymmetry (HERA) model, based on data obtained through functional neuroimaging, the left and right prefrontal cortices are preferentially, and, respectively, involved in long-term episodic memory encoding and retrieval. In this study, the HERA model was tested from a behavioral perspective using divided visual-field tachistoscopy. A recognition paradigm with both verbal and visuospatial materials was devised to differentiate memory-related effects (encoding vs.

Preservation of cognitive procedural memory in a case of Korsakoff's syndrome: methodological and theoretical insights.

Using the Tower of Hanoï puzzle, Butters, et al. in 1985 illustrated the difficulties in learning the procedure and questioned the suitability of this task for assessment of the cognitive procedural memory in Korsakoff's syndrome. Our objective, in the light of these criticisms, was to show preservation of cognitive procedure capacities with the Tower of Hanoï for a man (P.

[Clinical and cognitive study of apraxia in cortico-basal atrophy. A selective disorder of the production system].

The aim of this study was to characterize the different processes underlying apraxic disorders in cortico-basal degeneration. Three patients were submitted to a prospective paradigm elaborated in the theoretical framework proposed by Roy and Square (1985). This cognitive model postulates a two-steps system in the control mechanisms in limb praxis: the conceptual system and the production system.

The neural substrates of memory systems impairment in Alzheimer's disease. A PET study of resting brain glucose utilization.

The aim of this study was to determine the neuronal basis for memory impairment in Alzheimer's disease by taking advantage of the clinical and metabolic heterogeneity of this pathology. To this end, 19 patients satisfying the NINCDSADRDA criteria for probably Alzheimer's disease of mild-to-moderate severity underwent a detailed examination of the five memory systems according to Tulving's model, together with a PET measurement of resting regional cerebral glucose utilization (CMRGlc). Compared with controls, the patients as a group showed the expected memory and metabolic profiles of impairment.

Plasma superoxide dismutase and glutathione peroxidase activity in sporadic amyotrophic lateral sclerosis.

To determine the possible role of oxydative stress in the pathology of amyotrophic lateral sclerosis (SALS), we measured the plasma activities of superoxide dismutase (SOD) and glutathione peroxidase (GPX), together with GPX and malone dialdehyde (MDA, a marker of lipoperoxydation) plasma concentrations in a sample of 21 SALS patients and 7 normal control (NC) subjects. MDA concentration and SOD activity were significantly higher, whereas GPX activity was significantly lower in SALS patients than in NC. Increased MDA concentration provides indirect confirmation of excess lipoperoxydation.

Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q.

Objectives: To characterise clinically a large French family affected with cerebral cavernomas and to check for linkage of this condition to chromosome 7.

Methods: A family, originating from Normandy and in which five members had undergone surgery for cavernomas, was extended. All members older than 18 were studied clinically and by neuroimaging.

[Perception of musical sounds: contributions of positron emission tomography].

The perception of music is not a single global process. It encompasses the integration into conscience of various elements, such as sound pitch, tone, rhythm and impression of familiarity. Thus, it may be subjected to cognitive studies based on specific and complementary abilities of both cerebral hemispheres in these tasks.

[Multiple and unilateral paralysis of the cranial nerves revealing 2 cerebellar infarctions].

A 86 year old man suffered multiple palsies of the right V, VI, VII, VIII, IX and X cranial nerves preceded for several weeks by transient diplopia, facial palsy and vertigo. The CT scan and MRI showed two infarcts sitting in the territories of the right postero-inferior cerebellar artery and the right antero-inferior cerebellar artery. A cerebellar syndrome developed several days later.

Proliferating cell nuclear antigen (PCNA) in cerebral cavernomas: an immunocytochemical study of 42 cases.

Background: The natural history and growth mechanisms of cerebral cavernous angiomas are unclear, which makes them difficult to manage. We attempted to evaluate the evolutive potential of cavernomas by studying the proliferative capacity of cells.

Methods: We studied 42 histologically verified cavernomas with monoclonal antibody to proliferating cell nuclear antigen (PCNA), an accessory protein of the cell cycle, the rate of which is increased in proliferative cells.

The structural components of music perception. A functional anatomical study.

This work explores the cerebral structures involved in the appreciation of music. We studied six young healthy subjects (right handed, French, without musical talent), using a high resolution PET device (CTI 953B) and 15O-labelled water. In three tasks, we studied the effects of selective attention to pitch, timbre and rhythm; a final task studied semantic familiarity with tunes (considered as divided attention for pitch and rhythm).

Memory disorders in Alzheimer's disease and the organization of human memory.

The Squire and Zola-Morgan parallel organization model of the memory and the Tulving hierarchical model were developed mainly through the study of amnesic patients. The predictions of these two models are different, the first being more open to double dissociations and less restrictive than the second. Alzheimer's Disease is characterized by a differential impairment of the memory systems and by an interindividual variability which may take the form of dissociations between preserved and disturbed abilities in some patients.

Agraphia in Alzheimer's disease: an independent lexical impairment.

This study was conducted to delineate the pattern of the writing impairments in 12 patients with Alzheimer type dementia. The patients performed writing tasks involving regular and irregular words and nonwords given by dictation as well as a decision test composed of printed words and pictures requiring phonologic, lexical, and semantic processing. Writing from dictation demonstrated a predominant, but nonisolated, lexical deficit.

[Akinetic mutism with right hemiplegia caused by infarction in the territory of the left anterior cerebral artery].

A 65 years old woman with chronic high blood pressure and diabetes mellitus presented with a mutism akinetic of sudden onset and a right total hemiplegia with a Babinski sign secondary to a left anterior cerebral artery infarction. She had had six months earlier a transient gait disturbance. At that time, the CT scan showed lacunar infarcts of the head of both caudate nuclei.