Neuropathological characterization of two siblings carrying the MAPT S305S mutation demonstrates features resembling argyrophilic grain disease

Rönnbäck, Annica; Nennesmo, Inger; Tuominen, Hannu; Grueninger, Fiona; Viitanen, Matti; Graff, Caroline

doi:10.1007/s00401-013-1229-z

Cited by 15 publications

(10 citation statements)

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“…Other studies have demonstrated the linkage between argyrophilic grain disease and the S305I and S305S mutations on chromosome 17 that are linked to PSP and FTLD, respectively. 61,66 These genetic findings again support an overlap or shared pathogenesis between FTLD and argyrophilic grain disease. Argyrophilic grain disease in individuals with advanced age has been found to be associated with the APOE *2 allele.…”

Section: Commentmentioning

confidence: 63%

“…60 Over recent years, a number of cases with pathologically confirmed argyrophilic grain disease have been described with significant behavioral and psychiatric symptoms in patients with an earlier onset of symptoms than previously described as attributable to argyrophilic grain disease of aging. 4,[61][62][63][64][65] The coexistence of argyrophilic grain disease pathology with subtypes of FTLD-tau have also been described. All these cases appear to be associated with 4-repeat tauopathies such as PSP and CBD, with the exception of several cases linked to point mutations in the tau gene that are associated with a phosphorylation state rather than isoform expression.…”

Section: Comorbid Argyrophilic Grain Disease In Frontotemporal Lobar mentioning

confidence: 99%

“…All these cases appear to be associated with 4-repeat tauopathies such as PSP and CBD, with the exception of several cases linked to point mutations in the tau gene that are associated with a phosphorylation state rather than isoform expression. 61,66,67 These findings have raised speculation that argyrophilic grain disease may exist on the FTLD spectrum rather than as a unique degenerative disease of aging.…”

Section: Comorbid Argyrophilic Grain Disease In Frontotemporal Lobar mentioning

confidence: 99%

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Hippocampal Sclerosis, Argyrophilic Grain Disease, and Primary Age-Related Tauopathy

Jicha¹,

Nelson²

2019

CONTINUUM: Lifelong Learning in Neurology

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PURPOSE OF REVIEW: Hippocampal sclerosis, argyrophilic grain disease, and primary age-related tauopathy are common Alzheimer disease mimics that currently lack clinical diagnostic criteria. Increased understanding of these pathologic entities is important for the neurologist who may encounter patients with an unusually slowly progressive degenerative dementia that may appear to meet criteria for Alzheimer disease but who progress to develop symptoms that are unusual for classic Alzheimer disease RECENT FINDINGS: Hippocampal sclerosis has traditionally been associated with hypoxic/ischemic injury and poorly controlled epilepsy, but it is now recognized that hippocampal sclerosis may also be associated with a unique degenerative disease of aging or may be an associated pathologic finding in many cases of frontotemporal lobar degeneration. Argyrophilic grain disease has been recognized as an enigma in the field of pathology for over 30 years, but recent discoveries suggest that it may overlap with other tau-related disorders within the spectrum of frontotemporal lobar degeneration. Primary age-related tauopathy has long been recognized as a distinct clinical entity that lies on the Alzheimer pathologic spectrum, with the presence of neurofibrillary tangles that lack the coexistent Alzheimer plaque development; thus, it is thought to represent a distinct pathologic entity. SUMMARY: Despite advances in dementia diagnosis that suggest that we have identified and unlocked the mysteries of the major degenerative disease states responsible for cognitive decline and dementia in the elderly, diseases such as hippocampal sclerosis, argyrophilic grain disease, and primary age-related tauopathy demonstrate that we remain on the frontier of discovery and that our diagnostic repertoire of diseases responsible for such clinical symptoms remains in its infancy. Understanding such diagnostic confounds is important for the neurologist in assigning appropriate diagnoses and selecting appropriate therapeutic management strategies for patients with mild cognitive impairment and dementia. 208

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Section: Commentmentioning

confidence: 63%

Section: Comorbid Argyrophilic Grain Disease In Frontotemporal Lobar mentioning

confidence: 99%

Section: Comorbid Argyrophilic Grain Disease In Frontotemporal Lobar mentioning

confidence: 99%

See 1 more Smart Citation

Hippocampal Sclerosis, Argyrophilic Grain Disease, and Primary Age-Related Tauopathy

Jicha¹,

Nelson²

2019

CONTINUUM: Lifelong Learning in Neurology

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“…Recent studies described two MAPT mutations causing pathological features consistent with AGD. 20 , 72 A study published in 2008 demonstrated MAPT S305I mutation in a case with neuropathological diagnosis of AGD, while the most recent report described S305S mutation in a Scandinavian family where two siblings had neuropathological features resembling AGD. These reports describe common clinical features of early memory problems and behavioral changes.…”

Section: Introductionmentioning

confidence: 99%

Argyrophilic grain disease: An underestimated tauopathy

Rodriguez

Grinberg

2015

Dement. neuropsychol.

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Argyrophilic grain disease (AGD) is an under-recognized, distinct, highly frequent sporadic tauopathy, with a prevalence reaching 31.3% in centenarians. The most common AGD manifestation is slowly progressive amnestic mild cognitive impairment, accompanied by a high prevalence of neuropsychiatric symptoms. AGD diagnosis can only be achieved postmortem based on the finding of its three main pathologic features: argyrophilic grains, oligodendrocytic coiled bodies and neuronal pretangles. AGD is frequently seen together with Alzheimer's disease-type pathology or in association with other neurodegenerative diseases. Recent studies suggest that AGD may be a defense mechanism against the spread of other neuropathological entities, particularly Alzheimer's disease. This review aims to provide an in-depth overview of the current understanding on AGD.

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“…Multiple studies have also suggested a strong association with the H1 allele of the MAPT gene [14,30]. RÖnnbäck et al described two siblings carrying the MAPT S305S mutation who demonstrated neuropathological features resembling AGD [33]. A single case was also reported by Kovacs et al of a patient with MAPT S305I mutation and AGD-like neuropathology [25].…”

Section: Geneticsmentioning

confidence: 98%

Argyrophilic grain disease: a clinicopathological review of an overlooked tauopathy

Das¹,

Ishaque²

2018

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Argyrophilic grain disease (AGD) is a sporadic tauopathy and actually the second most frequent cause of dementia after Alzheimer's disease. Patients can present with slowly progressive cognitive decline as well as psychiatric manifestations such as depression. Definite diagnosis of AGD can only be made by post-mortem examination of the brain. Neuropathological features include argyrophilic grains in limbic areas along with oligodendroglial coiled bodies in hippocampal and amygdaloid white matter, and ballooned neurons in the amygdala. AGD, however, can often be overlooked and missed on neuropathologic examination as there are actually no specific clinical manifestations that would be considered highly suggestive of AGD. Thus, it is not uncommon to find neuropathological features of AGD in patients who do not present with any apparent neurological manifestations. The aim of this review is to provide an overview of what is currently known about AGD as well as raise its awareness among both neurologists and neuropathologists who may otherwise overlook this interesting tauopathy. We believe that patients above the age of 60 years should undergo post-mortem screening for AGD to avoid missed opportunity for diagnosis and enable future clinicopathological studies.

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Neuropathological characterization of two siblings carrying the MAPT S305S mutation demonstrates features resembling argyrophilic grain disease

Cited by 15 publications

References 8 publications

Hippocampal Sclerosis, Argyrophilic Grain Disease, and Primary Age-Related Tauopathy

Hippocampal Sclerosis, Argyrophilic Grain Disease, and Primary Age-Related Tauopathy

Argyrophilic grain disease: An underestimated tauopathy

Argyrophilic grain disease: a clinicopathological review of an overlooked tauopathy

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