MAPT gene related symptoms and diseases

All the information presented here about the MAPT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to MAPT gene

Symptoms // Phenotype	% Cases
Dementia	Common - Between 50% and 80% cases
Frontotemporal dementia	Common - Between 50% and 80% cases
Mental deterioration	Common - Between 50% and 80% cases
Behavioral abnormality	Common - Between 50% and 80% cases
Personality changes	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MAPT gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Parkinsonism
Neurofibrillary tangles
Aphasia
Alzheimer disease
Rigidity
Not very common - Between 30% and 50% cases
Neuronal loss in central nervous system
Hyperreflexia
Postural instability

And 143 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MAPT gene

Here you will find a list of rare diseases related to the MAPT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

PICK DISEASE OF BRAIN

Alternate names

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions, lobar atrophy of brain

Description

Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

Most common symptoms of PICK DISEASE OF BRAIN

Ventriculomegaly
Behavioral abnormality
Dementia
Cerebral cortical atrophy
Rigidity

More info about PICK DISEASE OF BRAIN

SOURCES: MESH OMIM

PARKINSON-DEMENTIA SYNDROME

Most common symptoms of PARKINSON-DEMENTIA SYNDROME

Hyperreflexia
Dysarthria
Tremor
Dementia
Kyphoscoliosis

More info about PARKINSON-DEMENTIA SYNDROME

SOURCES: OMIM ORPHANET MESH

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Alternate names

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME Is also known as psp, steele-richardson-olszewski disease, steele-richardson-olszewski syndrome, classic psp syndrome, richardson syndrome

Description

Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.

Most common symptoms of CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Seizures
Cognitive impairment
Hyperreflexia
Dysarthria
Tremor

More info about CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

SOURCES: OMIM ORPHANET

FRONTOTEMPORAL DEMENTIA; FTD

Alternate names

FRONTOTEMPORAL DEMENTIA; FTD Is also known as mstd, frontotemporal dementia with parkinsonism, ftld with tau inclusions, ddpac, ftdp17, wilhelmsen-lynch disease, pallidopontonigral degeneration, frontotemporal lobar degeneration with tau inclusions, frontotemporal lobe dementia, disinhibition-dementia-parkins

Description

Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

Most common symptoms of FRONTOTEMPORAL DEMENTIA; FTD

Hyperreflexia
Dysarthria
Skeletal muscle atrophy
Tremor
Dysphagia

More info about FRONTOTEMPORAL DEMENTIA; FTD

SOURCES: OMIM ORPHANET

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Description

Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

Ataxia
Cognitive impairment
Dysarthria
Tremor
Dysphagia

More info about PARKINSON DISEASE, LATE-ONSET; PD

SOURCES: OMIM

SEMANTIC DEMENTIA

Alternate names

SEMANTIC DEMENTIA Is also known as semantic primary progressive aphasia, semantic variant ppa

Description

Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.

Most common symptoms of SEMANTIC DEMENTIA

Dementia
Neurological speech impairment
Brain atrophy
Aphasia
Dyslexia

More info about SEMANTIC DEMENTIA

SOURCES: ORPHANET

PROGRESSIVE NON-FLUENT APHASIA

Alternate names

PROGRESSIVE NON-FLUENT APHASIA Is also known as agramatic variant of primary progressive aphasia, agramatic variant of ppa, non-fluent variant ppa

Description

Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.

Most common symptoms of PROGRESSIVE NON-FLUENT APHASIA

Behavioral abnormality
Depressivity
Anxiety
Mental deterioration
Stroke

More info about PROGRESSIVE NON-FLUENT APHASIA

SOURCES: ORPHANET

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Alternate names

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA Is also known as bv-ftd

Description

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

Most common symptoms of BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Hyperreflexia
Gait disturbance
Behavioral abnormality
Aggressive behavior
Mental deterioration

More info about BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

SOURCES: ORPHANET

Search interest in MAPT

Potential gene panels for MAPT gene

MAPT DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the MAPT gene.

MAPT gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MAPT gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to MAPT gene

PICK DISEASE OF BRAIN

Alternate names

Description

Most common symptoms of PICK DISEASE OF BRAIN

PARKINSON-DEMENTIA SYNDROME

Most common symptoms of PARKINSON-DEMENTIA SYNDROME

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Alternate names

Description

Most common symptoms of CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

FRONTOTEMPORAL DEMENTIA; FTD

Alternate names

Description

Most common symptoms of FRONTOTEMPORAL DEMENTIA; FTD

PARKINSON DISEASE, LATE-ONSET; PD

Alternate names

Description

Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD

SEMANTIC DEMENTIA

Alternate names

Description

Most common symptoms of SEMANTIC DEMENTIA

PROGRESSIVE NON-FLUENT APHASIA

Alternate names

Description

Most common symptoms of PROGRESSIVE NON-FLUENT APHASIA

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Alternate names

Description

Most common symptoms of BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Search interest in MAPT

Potential gene panels for MAPT gene

MAPT DNA Sequencing Test Panel

Frontotemporal Dementia (FTD) Evaluation Panel

Frontotemporal Dementia (FTDP) - MAPT Gene, Exon 10 Only Panel

Frontotemporal Dementia w/ Parkinsonism (FTDP) - MAPT Gene Panel

Dementia Panel

Movement Disorders Panel Panel

Parkinson's Disease Panel

MAPT. Complete sequencing Panel

GRN, MAPT. MLPA testing (exons 1,3,6,10 and 12 gene GRN and exons 2 to 13 gene MAPT) Panel

MAPT. Complete sequencing Panel

MAPT. Sequencing of the exons 1, 9, 10, 11, 12 and 13 Panel

MAPT. Sequencing of the exons 1, 9, 10, 11, 12 and 13 Panel

MAPT, GRN. MLPA testing Panel

Frontotemporal Dementia (sequence analysis of MAPT gene) Panel

Frontotemporal dementia (NGS panel for 13 genes) Panel

Parkinson disease (NGS panel for 33 genes) Panel

Hereditary dementias (NGS panel for 28 genes) Panel

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel

Frontotemporal Dementia via MAPT Gene Sequencing with CNV Detection Panel

Parkinson Disease Sequencing Panel with CNV Detection Panel

Dementia Sequencing Panel with CNV Detection Panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

Neurogenetic Disorders - panels Panel

FTD - ALS panel Panel

AllNeuro panel Panel

Dementia, frontotemporal Panel

Parkinsons disease panel Panel

Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel

Amyotrophic Lateral Sclerosis NGS Panel Panel

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Parkinson all Panel Panel

Frontotemporal Dementia (FTD) Panel Panel

Atypical Parkinson syndrome Panel Panel

Dementia all Panel Panel

Single gene testing MAPT Panel

Frontotemporal Dementia (MAPT and GRN) Panel

Frontotemporal Dementia Panel

Parkinson Disease Panel

Frontotemporal dementia, MAPT sequencing Panel

Test for MAPT-Related Disorders Panel

Dementia, frontotemporal, with or without parkinsonism Panel

Pick disease Panel