Pick Disease

Pick Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Pick Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • diffuse degenerative cerebral disease
  • lobar atrophy of the brain
  • dementia with lobar atrophy and neuronal cytoplasmic inclusions
  • Pick disease of the brain
  • frontotemporal lobar degeneration

Disorder Subdivisions

  • frontotemporal dementia with parkinsonism-17
  • frontotemporal dementia associated with motor neuron disease
  • primary progressive aphasia (nonfluent type)
  • behavioral variant frontotemporal dementia
  • semantic dementia

General Discussion

Pick disease is a form of dementia characterized by behavioral changes such as deterioration of social skills and changes in personality. Intellectual impairment, memory loss and language deterioration may also occur. Most cases of Pick disease are sporadic in nature, but a genetic form of the disease is recognized. Although a progressive form of communication impairment (aphasia) may occur as part of Pick disease, people with Pick disease have other behavioral problems besides language and communication impairment.

Symptoms

Symptoms of Pick disease can include behavioral, emotional and neurological changes as well as deterioration in language skills. Symptoms vary in affected individuals.



Behavioral symptoms can include changes in dietary preferences such as eating only one type of food, eating inedible objects or eating excessively. Repetitive behaviors (for example, collecting worthless objects), impulsive behaviors, neglect for personal hygiene, hyperactivity, and hypersexual behaviors may also occur.



Emotional symptoms may include socially inappropriate behavior, apathy, indifference to loved ones and mood swings. In some people, an early symptom is loss of interest or engagement during important social events (e.g. birthday celebrations). Neurological symptoms may include a movement disorder called Parkinsonism, characterized by decreased facial expression, slow movement, rigidity and instability, and, rarely, hand, head or body tremor. Abnormal eye movements and abnormal muscle postures may also occur as well as muscle weakness and jerks.



Language symptoms may include repetition of words spoken by another person (echolalia), difficulty speaking, lack of speech, trouble finding words, and decreased reading and writing comprehension. The voice may sound slurred or garbled and the cadence of speech may change so that the person with Pick disease is hard to understand. The person with Pick disease may begin to speak too loudly, too softly, or violate conversational rules (for example, may become a close talker, making others uncomfortable). Some people with Pick disease may lose the ability to link spoken or written words with meaning (semantic dementia), as if language has lost its ability to evoke complex thinking and associations in their mind.



Some people may have other mental symptoms including depression, difficulty with skilled hand movements, may become clumsy (for example, when using tools), or may have problems with planning, self-monitoring, and dual-tasking. Most people with Pick disease are unaware of the severity of their own symptoms, and this impaired self-monitoring appears to be separate from psychological denial.



Some people with a form of adult muscular dystrophy (Lou Gehrig disease, amyotrophic lateral sclerosis, or motor neuron disease) may also have symptoms of Pick disease. In this instance, the most severe symptoms are usually loss of drive and motivation.

Causes

Pick disease can be sporadic, hereditary or familial. Approximately 40-75% of individuals affected with Pick disease have the sporadic type that is not thought to run in families. Familial Pick disease is almost nonexistent when the patient has the diagnosis of semantic dementia.



Approximately 10% of those affected have a type of Pick disease that follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.



Nerve cells in the frontal lobe of the brains from individuals with Pick disease have been found to contain deposits of abnormal Tau protein or a lack of Tau. This protein is involved in the normal function of nerve cells. There are also abnormalities identified affecting other nerve cell proteins, which are often referred to asTDP-43 and FUS. Approximately 25-40% of cases of hereditary Pick disease are caused by an abnormality in the MAPT gene located on chromosome 17. The MAPT gene is responsible for the production of the Tau protein. Pick's disease caused by an abnormality in the MAPT gene is called frontotemporal dementia with parkinsonism-17 (FTDP-17), or FTLD-tau. When the TDP-43 nerve cell protein is implicated, abnormalities have been identified on chromosome 9.



Approximately 20-50% of those affected appear to have a form of Pick disease that is familial, which means that genetic factors are probably involved and family members have an increased risk to develop the disease, but the specific risk is undefined.

Affected Populations

Approximately 10-15% of individuals with dementia are thought to have Pick disease. The genetic and familial forms of Pick disease may occur more often in Scandinavian countries. Pick disease may be under-diagnosed, because it is sometimes confused with Alzheimer disease or with psychiatric disorders like depression or obsessive-compulsive disorder. The typical onset of Pick disease is in the 50's but it has been reported to begin as early as the 20's, and as late as age 80.

Standard Therapies

Diagnosis

The diagnosis of Pick disease is usually made using a combination of patient history, physical examination and tests that may include neurological examination, neurobehavioral and psychological testing and neuroimaging (CT, MRI, SPECT and PET scans). It is important to consult early with a specialist familiar with dementia and neurological thinking disorders.



Pick disease is characterized by atrophy (shrinkage) of the frontal and temporal lobes of the brain. In individuals with Pick disease, there are also changes in certain nerve cells. Under a microscope, these cells may appear ballooned or inflated and are referred to as "Pick cells." In addition, some nerve cells may contain unusual "inclusion" bodies (Pick inclusion cells). Individuals with Pick's disease do not have the characteristic plaques in the brain that are associated with Alzheimer disease.



Molecular genetic testing is available for the MAPT gene that is associated with frontotemporal dementia with parkinsonism-17 (FTDP-17), and (especially at academic research centers) tests for some of the other genes associated with Pick disease can be performed. It is important that anyone undergoing genetic testing speak with a genetic counselor so the full implications of the results of genetic testing can be discussed and understood.



Treatment

Treatment of Pick disease is symptomatic and supportive. Sedative and antipsychotic medications are sometimes used to treat behavioral symptoms. Behavioral management techniques can be tremendously helpful. Levodopa and other medications conventionally used to treat Parkinson disease can be beneficial in treating Parkinsonism. Medication treatment of depression can be helpful. There are ongoing research studies examining whether medications may enhance mental abilities in Pick disease; at this point, a standard medication regimen to enhance mental abilities has not yet been identified.



Early interdisciplinary care involving social work, psychological, psychiatric and neurological approaches may benefit the sufferer and family and facilitate end-of-life planning. A specialist experienced with the needs of the person with Pick disease and his or her family might be found at an academic dementia clinic, or through the referral of a geriatrician, psychiatrist, or memory disorders specialist. Caregiver support is an especially important part of the care plan.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



Contact for additional information about Pick disease:



A. M. Barrett, MD

Behavioral Neurology/Cognitive RehabilitationProfessor, Physical Medicine & Rehabilitation, UMDNJ-NJMS

Director, Stroke Rehabilitation Research, Kessler Foundation Research Center

Chief, Neurorehabilitation Program Innovation, Kessler Institute of Rehabilitation

1199 Pleasant Valley Way

West Orange, NJ 07079

Phone: (973) 324-3569

Fax: (973) 243-6984

References

JOURNAL ARTICLES

Josephs KA, Hodges JR, Snowden JS, et al. Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol. 2011;122:137-53.



Snowden J, Neary D, Mann D. Frontotemporal lobar degeneration: clinical and pathological relationships. Acta Neuropathol. 2007;114:31-38.



Forman MS, Farmer J, Johnson JK, et al. Frontotemporal dementia: clinicopathological correlations.

Ann Neurol. 2006;59:952-962.



Josephs KA, Petersen RC, Knopman DS, et al. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology. 2006;66:41-48.



Mackenzie IR, Baborie A, Pickering-Brown S, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 2006;112:539-549.



Kertesz A, McMonagle P, Blair M, Davidson W, Munoz DG. The evolution and pathology of frontotemporal dementia. Brain. 2005;128:1996-2005.



Hodges JR, Davies RR, Xuereb JH, et al. Clinicopathological correlates in frontotemporal dementia. Ann Neurol. 2004;56:399-406.



Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51:1546-1554.



Brun A. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry. 1994;57:416-418.



INTERNET

Barrett AM. Pick Disease. Emedicine. http://emedicine.medscape.com/article/1135504-overview. Updated January 26, 2012. Accessed April 5, 2012.



van Swieten JC, Rosso SM, and Heutink P. (Updated October 26, 2010). MAPT-Related Disorders. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2008. Available at http://www.genetests.org. Accessed April 5, 2012.



Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Pick Disease of the Brain. Entry No: 172700. Last Edited April 24, 2006. Available at: http://www.ncbi.nlm.nih.gov/omim/. Accessed April 5, 2012.

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)

5731 Mosholu Avenue

Bronx, NY 10471

USA

Tel: (347)843-6132

Fax: (718)601-5112

Email: wemove@wemove.org

Internet: http://www.wemove.org



Parkinson's Disease Foundation, Inc.

1359 Broadway

Suite 1509

New York, NY 10018

Tel: (212)923-4700

Fax: (212)923-4778

Tel: (800)457-6676

Email: info@pdf.org

Internet: http://www.pdf.org



Alzheimer's Association

225 N. Michigan Avenue

17th Floor

Chicago, IL 60601

USA

Tel: (312)335-8700

Fax: (866)699-1246

Tel: (800)272-3900

TDD: (312)335-5886

Email: info@alz.org

Internet: http://www.alz.org



Alzheimer's Disease Education and Referral Center

P.O. Box 8250

Silver Spring, MD 20907-8250

Tel: (301)495-3311

Fax: (301)495-3334

Tel: (800)438-4380

Email: adear@nia.nih.gov

Internet: http://www.nia.nih.gov/alzheimers



NIH/National Institute on Aging

31 Center Drive, MSC 2292

Building 31

Room 5C27

Bethesda, MD 20892

Tel: (301)496-1752

Fax: (301)496-1072

Tel: (800)222-2225

TDD: (800)222-4225

Email: bapquery@nia.nih.gov

Internet: http://www.nih.gov/nia



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



C-Mac Informational Services, Inc.

120 Clinton Lane

Cookeville, TN 38501-8946

Tel: (931)268-1201

Email: caregiver_cmi@hotmail.com

Internet: http://www.caregivernews.org



Association for Frontotemporal Degeneration

Radnor Station Building #2, Suite 320

290 King of Prussia Road

Radnor, PA 19087

Tel: (267)514-7221

Tel: (866)507-7222

Email: info@theaftd.org

Internet: http://www.theaftd.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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