There have been numerous advances in descriptions of genetic causes of<unk> , and the related disease amyotrophic lateral sclerosis. * Mutations in the Tau gene (known as MAPT or Microtubule Associated Protein Tau) can cause a<unk>  presenting with tau pathology <unk> -tau). There are over 40 known mutations at present. * Mutations in the Progranulin gene (PGRN) can cause a<unk>  presenting with TDP-43 pathology <unk> -TDP43). Patients with Progranulin mutations have type 3 ubiquitin-positive, TDP-43 positive, tau-negative pathology at post-mortem. Progranulin is associated with tumorgenesis when overproduced, however the mutations seen in<unk> -TDP43 produce a haploinsufficiency, meaning that because one of the two alleles is damaged, only half as much Progranulin is produced. * Mutations in the CHMP2B gene are associated with a rare behavioural syndrome akin to bvFTLD (mainly in a large Jutland cohort), presenting with a tau negative, TDP-43 negative, FUS negative, Ubiquitin positive pathology. * Hypermorphic mutations in the VCP gene cause a TDP-43-positive<unk>  which is associated with multisystem proteinopathy (MSP), also known as IBMPFD (inclusion body myopathy, Paget's disease and frontotemporal dementia) * A hypomorphic mutation in the VCP gene cause a unique type of<unk> -tau called vacuolar tauopathy with neurofibrillary tangles and neuronal vacuoles * Mutations in the TDP-43 gene (known as TARBP or TAR DNA-binding protein) are an exceptionally rare cause of<unk> , despite this protein being present in the pathological inclusions of many cases <unk> -TDP43). However, mutations in TARBP are a more common cause of ALS, which can present with frontotemporal dementia. Since these instances are not considered a pure<unk>  they are not included here. Mutations in all of the above genes cause a very small fraction of the<unk>  spectrum. Most of the cases are sporadic (no known genetic cause). * A proportion of<unk> -TDP43 with ALS cases had shown genetic linkage to a region on chromosome 9 <unk> -TDP43/Ch9). This linkage has recently been pinned down to the C9ORF72 gene. Two groups published identical findings back-to-back in the journal Neuron in mid-2011, showing that a hexanucleotide repeat expansion of the GGGGCC genetic sequence within an intron of this gene was responsible. This expansion was found to be present in a large proportion of familial and sporadic cases, particularly in the Finnish population
Frontotemporal lobar degeneration
Corticobasal degeneration
Low pressure hydrocephalus
Lewy body dementias
Normal pressure hydrocephalus
Multiple system atrophy
Dementia with Lewy bodies
Frontotemporal dementia