 |
|
Clinical Characteristics of a Chromosome 17—Linked Rapidly Progressive Familial Frontotemporal Dementia
Hans Basun, MD, PhD;
Ove Almkvist, PhD;
Karin Axelman, RN;
Arne Brun, MD, PhD;
Tracy A. Campbell;
John Collinge, MD;
Charlotte Forsell, MSc;
Susanne Froelich, MSc;
Lars-Olof Wahlund, MD, PhD;
Lennart Wetterberg, MD, PhD;
Lars Lannfelt, MD, PhD
Arch Neurol. 1997;54(5):539-544.
Abstract
| |
Objective
To describe symptoms, signs, neuroimaging results, and neuropathologic findings in patients from a family with chromosome 17q21—linked autosomal dominant frontotemporal dementia.
Design
Multiple case report with genetic investigations.
Subjects
The disease was observed in a Swedish family and documented in 3 generations. Four siblings are described in this article.
Results
A rapidly progressive dementia with genetic linkage to chromosome 17q21 was observed. The mean age of onset was 51 years and the average duration of disease to death was 3 years. Two patients started with speech disturbances leading to a progressive, nonfluent aphasia, 1 patient had onset symptoms of leg apraxia and akinesia and muscular rigidity, and in 1 patient reckless driving was the first symptom. Loss of spontaneous speech developed later in all patients and emotional bluntness in 3 of the patients. Cerebral perfusion was decreased in the frontal areas in all patients. In the person with apraxia as the onset symptom, the cerebral blood flow was also diminished in the left hemisphere, where a slight atrophy was detected on magnetic resonance imaging scans. At the postmortem examination, slight gliosis of the parietal lobes was observed in this patient. In all patients there was a frontocentral degeneration of the cortex with discrete microvacuolation and gliosis.
Conclusion
Clinical features of frontotemporal dementia, parkinsonism, an early age of onset, a rapid disease progression, and variable onset symptoms were seen in these patients. Two other clinically distinct diseases, dementia with pallido-ponto-nigral degeneration and a disinhibition-dementia-parkinsonism-amyotrophy complex, have recently been mapped to chromsome 17q21. In the family described in this article, genetic linkage was detected to the same region, suggesting the possibility that these diseases may originate from pathogenic mutations in the same gene.
Author Affiliations
From the Department of Clinical Neuroscience and Family Medicine, Karolinska Institutet, Alzheimer Disease Research Center, Huddinge University Hospital, Huddinge, Sweden (Drs Basun, Almkvist, Wahlund, and Lannfelt and Mss Axelman, Forsell, and Froelich), the Department of Psychiatry, Karolinska Institutet, St Göran's Hospital, Stockholm, Sweden (Dr Wetterberg), the Department of Neuropathology, University Hospital, Lund, Sweden (Dr Brun), and the Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, England (Ms Campbell and Dr Collinge).
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
|
An Evidence-Based Review of the Psychopathology of Frontotemporal Dementia: A Report of the ANPA Committee on Research
Mendez et al.
J. Neuropsychiatry Clin. Neurosi. 2008;20:130-149.
ABSTRACT
| FULL TEXT
Primary progressive aphasia: a case report
Hong et al.
Age Ageing 2007;36:700-702.
ABSTRACT
| FULL TEXT
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
Snowden et al.
Brain 2006;129:3091-3102.
ABSTRACT
| FULL TEXT
Mapping the onset and progression of atrophy in familial frontotemporal lobar degeneration
Janssen et al.
J. Neurol. Neurosurg. Psychiatry 2005;76:162-168.
ABSTRACT
| FULL TEXT
Progressive non-fluent aphasia is associated with hypometabolism centred on the left anterior insula
Nestor et al.
Brain 2003;126:2406-2418.
ABSTRACT
| FULL TEXT
Primary Progressive Aphasia -- A Language-Based Dementia
Mesulam
NEJM 2003;349:1535-1542.
FULL TEXT
Primary progressive aphasia: A review of the neourobiology of a common presentation of Pick complex
Kertesz and Munoz
AM J ALZHEIMERS DIS OTHER DEMEN 2002;17:30-36.
ABSTRACT
Cognitive Deficits Associated With a Recently Reported Familial Neurodegenerative Disease: Familial Encephalopathy With Neuroserpin Inclusion Bodies
Bradshaw et al.
Arch Neurol 2001;58:1429-1434.
ABSTRACT
| FULL TEXT
Emergent Neuroleptic Hypersensitivity as a Herald of Presenile Dementia
Mendez and Lipton
J. Neuropsychiatry Clin. Neurosi. 2001;13:347-356.
ABSTRACT
| FULL TEXT
Clinical and Pathological Evidence for a Frontal Variant of Alzheimer Disease
Johnson et al.
Arch Neurol 1999;56:1233-1239.
ABSTRACT
| FULL TEXT
|
