Familial dementia with Pick's cells – a case report of probable familial Pick's disease

Gaughran, Fiona; Keohane, Catherine; Buckley, Mary

doi:10.1017/s0790966700016049

Cited by 5 publications

(4 citation statements)

References 17 publications

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“…11,12 The most frequently identified genetic locus is on chromosome 17, although a locus on chromosome 3 has been demonstrated in one pedigree. [2][3][4][5][6][13][14][15][16][17][18][19][20][21][22][23][24][25] Although the published chromosome 17-linked kindreds share core clinical and neuropathological features, they exhibit considerable pathological and phenotypic heterogeneity, similar to that observed in smaller nonlinked families. 1 Whether the conditions that have been collectively termed FTD and parkinsonism linked to chromosome 17 (FTDP-17) are allelic remains an important issue, because how mutations in a single gene could cause such variable clinical and pathological presentations is not presently understood.…”

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confidence: 99%

From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

et al. 1999

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Frontotemporal dementia is a heterogeneous, often inherited disorder that typically presents with the insidious onset of behavioral and personality changes. Two genetic loci have been identified and mutations in tau have been causally implicated in a subset of families linked to one of these loci on chromosome 17q21‐22. In this study, linkage analysis was performed in a large pedigree, the MN family, suggesting chromosome 17q21‐22 linkage. Mutational analysis of the tau coding region identified a C‐to‐T change in exon 10 that resulted in the conversion of proline to a leucine (P301L) that segregated with frontotemporal dementia in this family. The clinical and pathological findings in the MN family emphasize the significant overlap between Pick's disease, corticobasal degeneration, and frontotemporal dementia and challenge some of the current dogma surrounding this condition. Pathological studies of two brains from affected members of Family MN obtained at autopsy demonstrate numerous tau‐positive inclusions that were most prominent in the frontal lobes, anterior temporal lobes, and brainstem structures, as well as Pick‐like bodies and associated granulovacuolar degeneration. These Pick‐like bodies were observed in 1 patient with motor neuron disease. Because exon 10 is present only in tau mRNA coding for a protein with four microtubule binding repeats (4R), this mutation should selectively affect 4Rtau isoforms. Indeed, immunoblotting demonstrated that insoluble 4Rtau is selectively aggregated in both gray and white matter of affected individuals. Although there was significant pathological similarity between the 2 cases, the pattern of degenerative changes and tau‐positive inclusions was not identical, suggesting that other genetic or epigenetic factors can significantly modify the regional topology of neurodegeneration in this condition. Ann Neurol 1999;45:704–715

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confidence: 99%

From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

et al. 1999

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“…Pick's disease (PD) was originally described by Arnold Pick in 1892 as a progressive language disturbance after investigating an autopsied patient with circumscribed atrophy in the left temporal lobe. It is an uncommon brain disorder of unknown cause, which accounts for approximately 5% of patients with dementia (6,7). It can occur at any age but is commonest in the fifth and sixth decades.…”

Section: Introductionmentioning

confidence: 99%

“…The patients usually present with personality and behavioral changes, speech disorder often with aphasia, and frontal and/or temporal lobe atrophy. Extrapyramidal signs are noticeably unusual (7,8). The average course to death is 2-5 years, but some patients do live longer than 10 years.…”

Section: Introductionmentioning

confidence: 99%

“…Pathologically the hallmarks of the disease are severe atrophy of the temporal and/or frontal lobes and the presence of large neurons with homogeneous cytoplasmic swellings (Pick's cells), sometimes associated with a dense cytoplasmic body (Pick body). Be that as it may, as similar large "ballooned" neurons have been described in other neurodegenerative disorders , and there are no agreed minimal diagnostic criteria for Pick's disease, there is debate as to whether some familial dementing disorders without conclusive pathological changes (such as "thalamic dementia" and "dementia of frontal lobe type") represent separate distinct entities or variants of Pick's (7). Table 1 Revised criteria for the clinical diagnosis of probable and possible dementia with Lewy bodies (DLB).…”

Section: Introductionmentioning

confidence: 99%

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"Differential diagnosis between Pick’s Dementia and Dementia with Lewy body deciphered by the development of neuroleptic malignant syndrome: a case report"

Iacob¹,

Palimariciuc²,

Chiriță³

et al. 2020

BPI

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Dementia with Lewy bodies (DLB) and Pick's Dementia (PD) share some of the signs and symptoms of Alzheimer's disease (AD) but are clinically distinct entities. The first one is differentiated through the manifestation of hallucinations and Parkinsonism while the second one's particularity are the behavioural symptoms preceding the cognitive deficit. This paper features a case of a patient, which initially manifested symptoms specific to PD, but developed Neuroleptic Malignant Syndrome (NMS) while under treatment with an atypical antipsychotic, which led to a presumed diagnosis of DLB although initially, the patient manifested none of the core symptoms for DLB.

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The neuropathology of chromosome 17‐linked dementia

Sima

Defendini

Keohane

et al. 1996

Annals of Neurology

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We recently described a family with chromosome 17-linked dementia, characterized clinically by disinhibition-dementia-parkinsonism-amyotrophy complex. We report now the neuropathology of 6 affected family members. This included semiquantitative scoring of neuronal loss, gliosis, and spongiosis and immunocytochemical and ultrastructural characterization of neuronal and glial inclusions. The changes consisted of circumscribed neuronal loss, gliosis, and spongiosis of limbic neocortical areas and frontal, temporal, and occipital association areas. Similar changes were present in subcortical nuclei, most severe in the substantia nigra, but also involved the ventral striatum and amygdala. The hippocampus was spared except for degeneration of the afferent perforant tract, secondary to entorhinal nerve cell loss. Argyrophilic neuronal inclusions, with a characteristic immunocytochemical profile, were found in brainstem nuclei, hypothalamus and basal ganglia. Ultrastructurally, in 3 patients these inclusions showed hitherto undescribed abnormally assembled filaments. Glial cytoplasmic inclusions were widespread in white matter structures. Immunocytochemistry failed to demonstrate the protease-resistant prion protein. The pathology appears to be unique, involving various cortical and subcortical structures, and is consistent with the clinical findings of Kluver-Bucy-like syndrome, parkinsonism, and frontal lobe dementia. For this entity we suggest the term "chromosome 17-linked dementia."

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Familial dementia with Pick's cells – a case report of probable familial Pick's disease

Cited by 5 publications

References 17 publications

From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

"Differential diagnosis between Pick’s Dementia and Dementia with Lewy body deciphered by the development of neuroleptic malignant syndrome: a case report"

The neuropathology of chromosome 17‐linked dementia

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