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Pick disease is a rare neurodegenerative disorder characterized by frontotemporal lobar degeneration with pathological accumulation of tau proteins, which aggregate into intraneuronal inclusions known as Pick bodies. The condition leads to progressive dementia predominantly affecting the frontal and temporal cortices. Two causative genes are certified in this packet: MAPT (microtubule-associated protein tau, chromosome 17) and PSEN1 (chromosome 14). Certified inheritance patterns include both sporadic and autosomal dominant presentations. The GeneReviews chapter for MAPT-related frontotemporal dementia, which shares neuropathological features with Pick disease through the tau protein axis, provides supplementary clinical context.
Certified prevalence data is not present as a structured field in this packet. The GeneReviews chapter reports an estimated MAPT-FTD prevalence of approximately 0.8 per 100,000 individuals based on a recent epidemiological study. The OMIM designation is 172700.
Clinical Presentation
Data assembled from 7 of 12 sources · Last updated Nov 4, 2026, 4:20 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
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FAQ
Frequently Asked Questions
Common questions about Pick disease
Pick disease is a rare neurodegenerative disorder that primarily leads to dementia. It is marked by frontotemporal lobar degeneration, where the front and side parts of the brain shrink over time. A key aspect of this condition is the abnormal buildup of a protein called tau, which forms structures known as Pick bodies. This protein accumulation contributes to the brain changes seen in people with Pick disease.
The condition is recognized as one of the causes of early-onset dementia and is associated with changes in the brain tissue. The definition of Pick disease highlights the importance of both the degeneration in specific brain areas and the role of tau protein accumulation in its development.
Information about symptoms is currently limited for this condition.
Pick disease is linked to the abnormal buildup of tau protein in the brain that forms Pick bodies, which leads to frontotemporal degeneration. Genetic factors may also play a role since changes in genes such as MAPT and PSEN1 have been noted. This suggests that genetic variations can contribute to the development of the disease in some people. Associated genes include MAPT, PSEN1.
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
The certified packet does not include a structured phenotype list for Pick disease. Based on GeneReviews clinical description for MAPT-related frontotemporal dementia, the clinical spectrum encompasses behavioral changes, motor disturbances, and, less commonly, language or memory involvement.
According to GeneReviews, the most common presentation is behavioral variant frontotemporal dementia, meeting criteria for significant behavioral change. Parkinsonian features — including progressive supranuclear palsy or corticobasal syndrome patterns — are a common manifestation. Language impairment, most often of a semantic character, and amnesic presentations occur less frequently, each present in fewer than the majority of affected individuals per GeneReviews frequency data.
GeneReviews documents a mean age of clinical onset of 49.5 years (range 17 to 82 years) and a mean age of death of 58.5 years (range 24 to 93 years) in a worldwide observational study. Disease duration between onset and death averages approximately nine years per GeneReviews data. Clinical presentation may vary between and within families with the same molecular variant.
Explore clinical features
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
Two causative genes are certified in this packet: MAPT (chromosome 17) and PSEN1 (chromosome 14). No ClinGen clinical validity classifications are provided for either gene-disease association. MAPT encodes microtubule-associated protein tau; the GeneReviews chapter for MAPT-related frontotemporal dementia documents multiple genotype-phenotype correlations, with different MAPT variants associated with distinct predominant clinical presentations — behavioral variant FTD, parkinsonian features, or (in a minority) amnesic or language-predominant presentations.
Certified inheritance patterns are sporadic and autosomal dominant. GeneReviews penetrance guidance notes that MAPT-related disease is commonly considered fully penetrant, though occasional reduced penetrance may exist in some families with specific variants.
Diagnosis
Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.
No certified diagnostic method list is present in this packet. According to GeneReviews for MAPT-related frontotemporal dementia, no consensus clinical diagnostic criteria have been published. GeneReviews specifies that MAPT-FTD should be suspected in individuals presenting with behavioral changes consistent with behavioral variant FTD, parkinsonian features suggesting corticobasal syndrome or progressive supranuclear palsy, or, less commonly, an amnesic presentation. Mean age of onset is 49.5 years per GeneReviews observational data.
GeneReviews diagnostic guidance notes that neuroimaging can evaluate for other conditions that may mimic frontotemporal dementia, including white matter disease, focal cortical lesions, frontotemporal tumors, and cerebrovascular disease. The clinical characteristics of MAPT-related disease overlap substantially with those of other conditions including FTD of unknown cause, other genetic FTD subtypes, and non-FTD spectrum disorders, making clinical prediction of specific molecular etiology difficult without molecular testing.
Treatment
Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.
No FDA-approved therapies for Pick disease are certified in this packet's approved-treatment records. According to GeneReviews for MAPT-related frontotemporal dementia, there is no cure. Supportive management aimed at improving quality of life and maximizing function is described in GeneReviews as the available approach. GeneReviews treatment guidance describes a multidisciplinary care framework encompassing neurologic, nursing, speech-language, physical therapy, occupational therapy, nutrition, psychiatric, and social work involvement.
For parkinsonian manifestations, GeneReviews documents a levodopa trial as a management approach, with the note that the majority of affected individuals do not show significant levodopa response. For psychiatric and behavioral manifestations, GeneReviews documents selective serotonin reuptake inhibitors as a pharmacologic approach for affective disorders and behavioral disturbances; for severe refractory agitation and psychosis, atypical antipsychotics are noted as a temporizing measure in GeneReviews. For dysarthria, GeneReviews specifies involvement of speech-language pathology and use of augmentative communication devices. Dysphagia is addressed with evaluation and dietary modification per GeneReviews guidance.
One withdrawn orphan drug record is present in this packet, pertaining to a cellular therapy for cytomegalovirus infection — an unrelated indication. This record does not represent a therapy for Pick disease.
Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.
According to GeneReviews for MAPT-related frontotemporal dementia, a worldwide observational study reported a mean age of death of 58.5 years (range 24 to 93 years) and an average disease duration of approximately nine years from onset to death. Penetrance is described in GeneReviews as commonly thought to be full, with occasional reduced penetrance observed in some families with specific variant profiles. No additional certified natural history or prognosis data is present in this packet.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
Several active trial records are certified for Pick disease, with 27 active records documented. Certified records include a pivotal Phase 3 study of N-Acetyl-L-Leucine in Niemann-Pick disease type C (NCT05163288, IntraBio); the Swedish BioFINDER 2 Study examining neurodegenerative disease biomarkers (NCT03174938); a study of peripheral biomarkers and integrative modeling for prognostic confidence in neurodegenerative dementias (NCT06529744); a study of retinal hyperspectral imaging in neurodegenerative diseases (NCT07545473); and cord blood transplant and oligodendrocyte-like cell administration for inherited metabolic diseases (NCT02254863). The research landscape digest for Pick disease documents 265 total classified publications with a predominant focus on basic science and preclinical research, 46 review articles, and 33 case reports. Biomarker research activity and gene therapy investigations are also represented in the research landscape.
With its acquisition of IntraBio, Shionogi will gain ownership over Aqneursa, which could hit peak global sales of $1 billion across its two indications in Niemann-Pick disease type C and ataxia-telangiectasia, according to Jefferies. IntraBio continues to study Aqneursa in other rare diseases, including GM2 gangliosidoses, inherited cerebellar ataxias and CACNA1A-related disorders. The biotech, founded in 2015, is also developing treatments for common disorders like migraine and dementias. Shionogi has moved to acquire commercial-stage IntraBio for $2 billion upfront just weeks after the Texas-based biotech secured an FDA approval in a rare disease for which there are no other treatments. Tristan is BioSpace‘s senior staff writer. Based in Metro Manila, Tristan has more than eight years of experience writing about medicine, biotech and science. Despite a slowdown in Q3, 2026 is still shaping up to be a big year for M&A. Recent standout takeovers include Vertex Pharmaceuticals’ acquisition of Crinetics Pharmaceuticals—a deal originally billed to be worth $10 billion but which has been valued at $8.8 billion by S&P Capital IQ, after taking into account debt and other factors.
With its acquisition of IntraBio, Shionogi will gain ownership over Aqneursa, which could hit peak global sales of $1 billion across its two indications in Niemann-Pick disease type C and ataxia-telangiectasia, according to Jefferies.
Shionogi & Co. agreed to acquire ... approved rare disease drug and a pipeline of neurodegenerative disease programs to its portfolio. Under the terms of the deal, signed Monday, Shionogi's U.S. division — headquartered in New Jersey — will purchase all of IntraBio's shares, absorbing the biotech as a wholly owned subsidiary. The transaction is expected to close between November and December, the company said. Through the acquisition, Shionogi ... Shionogi & Co. agreed to acquire Austin, Texas-based IntraBio for $2 billion, adding an approved rare disease drug and a pipeline of neurodegenerative disease programs to its portfolio. Under the terms of the deal, signed Monday, Shionogi's U.S. division — headquartered in New Jersey — will purchase all of IntraBio's shares, absorbing the biotech as a wholly owned subsidiary. The transaction is expected to close between November and December, the company said. Through the acquisition, Shionogi will take ownership of worldwide rights to Aqneursa (levacetylleucine), encompassing both intellectual property and commercialization rights. The deal extends a rare disease push that Shionogi began when it brought the ALS therapy Radicava into its portfolio in April 2026 by securing worldwide rights to edaravone from Tanabe Pharma. "Bringing Aqneursa to Shionogi after our acquisition of Radicava will deepen our commitment to rare disease communities, expand our capabilities and strengthen our portfolio as we advance future innovation for patients with significant unmet needs," CEO Isao Teshirogi said in a statement. The drug is approved in the U.S. for the treatment of neurological manifestations of Niemann-Pick disease type C, a rare inherited disorder that impairs the movement of cholesterol and other lipids within cells. The U.S. Food and Drug Administration approved Aqneursa for that condition in September 2024 and the European Medicines Agency followed in January 2026. The FDA granted Aqneursa a second approval on September 18, 2026, for the treatment of ataxia in patients with Ataxia-Telangiectasia, a rare progressive neurodegenerative disease that typically begins in early childhood. Shionogi said IntraBio's rare disease capabilities would also support its broader pipeline, which includes clinical programs in Pompe disease, Fragile X $TWTR syndrome, and Jordan's syndrome.
Japanese firm builds its global rare disease portfolio and pipeline with acquisition of US-based IntraBio and lead drug Aqneursa for Niemann-Pick disease Type C.
