Phenotypic Variation of Autosomal-Dominant Corticobasal Degeneration

Jung, Hans H.; Bremer, Juliane; Streffer, Johannes; Virdee, Kanwar; Spillantini, Maria Grazia; Crowther, R. Anthony; Brugger, Peter; Broeckhoven, Christine Van; Aguzzi, Adriano; Tolnay, Markus

doi:10.1159/000334731

Cited by 10 publications

(9 citation statements)

References 62 publications

(41 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It has been known for some time that while the characteristic lesions of CBD (tau-positive astrocytic plaques and thread-like lesions in both the white and grey matter) discriminates CBD from the other FTLD-tau subtypes, they do not discriminate sporadic CBD cases from those with MAPT mutations ( Dickson et al , 2002 ) and therefore recent clinical criteria exclude cases with a family history or MAPT mutation from a diagnosis of probable (although not possible) CBD ( Armstrong et al , 2013 ). It has also been long recognized that there is considerable clinical, pathological and genetic overlap between CBD and PSP ( Katsuse et al , 2003 ; Lang, 2003 ; Tan et al , 2005 ; Jung et al , 2012 ) with genome wide association studies showing that common polymorphisms in MAPT , MOBP and VEGFA increase the risk for both CBD and PSP ( Borroni et al , 2010 ; Kouri et al , 2014 , 2015 ). While familial forms of the CBD pathological subtype are recognized ( Dickson et al , 2002 ), familial forms of PSP occur but are considered rare (<10% of cases) ( de Yebenes et al , 1995 ; Rojo et al , 1999 ; Vanacore et al , 2001 ; Ros et al , 2005 ; Donker Kaat et al , 2009 ; Rohrer et al , 2011 ; Fujioka et al , 2015 ), possibly because of the more typical motor phenotype being identified with pathological PSP.…”

Section: Discussionmentioning

confidence: 99%

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies

Forrest

Kril

Stevens

et al. 2017

Brain

Self Cite

123

101

View full text Add to dashboard Cite

See Josephs (doi:) for a scientific commentary on this article.Mutations in the MAPT gene on chromosome 17 are associated with frontotemporal lobar degeneration (FTLD). Mutation-associated cases are currently classified separately from sporadic cases with tau inclusions, as FTDP-17, but Forrest et al. provide evidence that these cases should in fact be considered familial forms of FTLD-tau subtypes.

show abstract

Section: Discussionmentioning

confidence: 99%

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies

Forrest

Kril

Stevens

et al. 2017

Brain

Self Cite

123

101

View full text Add to dashboard Cite

show abstract

“…Time of onset of dystonia was provided in only 36 of 111 CBD with dystonia cases 1, 5, 31, 32, 34, 35, 37, 38, 40–45, 47, 51–57, 60, 63, 65, 81. Of these, 52.8% presented dystonia within 2 years from disease onset.…”

Section: Resultsmentioning

confidence: 99%

Dystonia in corticobasal degeneration: A review of the literature on 404 pathologically proven cases

2012

View full text Add to dashboard Cite

A B S T R A C T :Dystonia is considered one of the classical features of corticobasal degeneration and is reported in up to 83% in clinical, not pathologically confirmed, series. Here, we aimed to establish the frequency and the clinical characteristics of dystonia in CBD by reviewing the literature on 404 pathologically proven cases. Further, we aimed to identify the frequency and characteristics of dystonia in all described phenotypes with CBD pathology. Dystonia was present in only 37.5% of the 296 cases with adequate information. The majority of the cases with dystonia presented with a corticobasal syndrome, and dystonia occurred in the first 2 years from disease onset, affecting the upper limb. In cases with dystonia that presented with a ''dementia'' phenotype, dystonia tended to appear later in the disease course and to more affect the cervical region and the face. With regard to the distribution of the phenotypes, fifty-four percent of 374 cases presented as corticobasal syndrome, 15% as frontotemporal dementia, and 10.7% as progressive supranuclear palsy. Dystonia and myoclonus were present in about half of all cases with corticobasal syndrome, implying that these features may not be as frequent in corticobasal syndrome as are akinetic-rigid syndrome and apraxia (100% and 86.3%, respectively). Dystonia and myoclonus almost co-occurred in our analysis, suggesting a possible association. In conclusion, despite dystonia being an inclusion criterion in all sets of clinical criteria for corticobasal degeneration, this was present in only one third of the pathologically proven cases presented here. More accurate characterization of dystonia in corticobasal degeneration would be of importance for clinical diagnosis and development of treatment strategies. V C 2012 Movement Disorder Society

show abstract

“…Recently, Marshall et al reported a novel heterozygous mutation, p.C291R, with an unusual clinical presentation characterized by progressive apraxia of speech and CBS (Marshall et al, 2015). Although in this family apraxia of speech was the dominant sign, CBS is also known to overlap PPA and FTD and word finding difficulties can be a presenting symptom in CBS (Jung et al, 2012). …”

Section: Discussionmentioning

confidence: 78%

“…Despite having some risk associations with MAPT variants (Jung et al, 2012; Rossi et al 2008; Wischik et al, 2015) pathogenic MAPT mutations are an unusual cause of CBS thus making it hard to define a clear genotype-phenotype correlation.…”

Section: Discussionmentioning

confidence: 99%

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America

Gatto

Allegri

Prat

et al. 2017

Neurobiology of Aging

View full text Add to dashboard Cite

Frontotemporal lobar degeneration (FTLD) is a neuropathological disorder that causes a variety of clinical syndromes including fronto-temporal dementia (FTD), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17 (FTDP-17). Herein we report an Argentinean family, of Basque ancestry, with an extensive family history of behavioral variant of FTD (bvFTD). Twenty one members over 6 generations composed the pedigree. An extensive neurological and neurocognitive examination was performed on 2 symptomatic individuals and 3 non-symptomatic individuals. Two different phenotypes were identified among affected members, CBS in the proband and FTD in his brother. DNA was extracted from blood for these five individuals and whole-exome sequencing (WES) was performed on 3 of them followed by Sanger sequencing of candidate genes on the other 2. In both affected individuals a missense mutation (p.P301L; rs63751273) in exon 10 of the MAPT gene (chr17q21.3) was identified. Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: a) aggressive, symmetrical and early-onset Parkinsonism; b) late parkinsonism associated with FTD and c) PSP but only exceptionally it is reported associated to CBS. This is the first report of the occurrence of the p.P301L-MAPT mutation in South America and supports the marked phenotypic heterogeneity among members of the same family as previously reported.

show abstract

Phenotypic Variation of Autosomal-Dominant Corticobasal Degeneration

Cited by 10 publications

References 62 publications

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies

Dystonia in corticobasal degeneration: A review of the literature on 404 pathologically proven cases

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America

Contact Info

Product

Resources

About