Neurofibromatosis type 1 epidemiology and demographics: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
 
(4 intermediate revisions by the same user not shown)
Line 4: Line 4:
{{CMG}}; {{AE}} [[User:MoisesRomo|Moises Romo M.D.]]  
{{CMG}}; {{AE}} [[User:MoisesRomo|Moises Romo M.D.]]  
==Overview==
==Overview==
Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.<ref name="urlNeurofibromatosis - Orthopaedics and Trauma">{{cite web |url=https://www.orthopaedicsandtraumajournal.co.uk/article/S1877-1327(15)00017-2/fulltext |title=Neurofibromatosis - Orthopaedics and Trauma |format= |work= |accessdate=}}</ref>
'''[[Neurofibromatosis type 1]]''' is the most common single [[gene]] disorder in [[humans]], occurring in about 30 to 40 in 100,000 births worldwide.


Older paternal age may increase the chances for de novo mutations in NF1 gene.<ref name="pmid282300612">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid9358268">{{cite journal |vauthors=Bunin GR, Needle M, Riccardi VM |title=Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues |journal=Genet. Epidemiol. |volume=14 |issue=5 |pages=507–16 |date=1997 |pmid=9358268 |doi=10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y |url=}}</ref><ref name="pmid22302476">{{cite journal |vauthors=Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M |title=The importance of advanced parental age in the origin of neurofibromatosis type 1 |journal=Am. J. Med. Genet. A |volume=158A |issue=3 |pages=519–23 |date=March 2012 |pmid=22302476 |doi=10.1002/ajmg.a.34413 |url=}}</ref>
The country with major [[prevalence]] of [[neurofibromatosis type 1]] reported is Israel, while the one with the least reported in Denmark.
 
Older [[Paternal age effect|paternal age]] may increase the chances for de novo [[Mutation|mutations]] in [[NF1|NF1 gene]].
 
There is no [[race]] or [[Gender-based medicine|gender]] predilection for [[neurofibromatosis type 1]].


==Epidemiology and Demographics==
==Epidemiology and Demographics==
===Incidence===
===Incidence===
*The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.
 
*The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="Riccardi1987">{{cite journal|last1=Riccardi|first1=Vincent M.|title=Neurofibromatosis|journal=Neurologic Clinics|volume=5|issue=3|year=1987|pages=337–349|issn=07338619|doi=10.1016/S0733-8619(18)30909-5}}</ref>
*The [[Incidence (epidemiology)|incidence]] of [[neurofibromatosis type 1]] is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061" />
*The [[Incidence (epidemiology)|incidence]] of [[neurofibromatosis type 1]] is approximately 14-26 per 100,000 individuals in the United States.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="Riccardi1987">{{cite journal|last1=Riccardi|first1=Vincent M.|title=Neurofibromatosis|journal=Neurologic Clinics|volume=5|issue=3|year=1987|pages=337–349|issn=07338619|doi=10.1016/S0733-8619(18)30909-5}}</ref>


===Prevalence===
===Prevalence===
*The prevalence of neurofibromatosis is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid25354145">{{cite journal |vauthors=Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S |title=Incidence and mortality of neurofibromatosis: a total population study in Finland |journal=J. Invest. Dermatol. |volume=135 |issue=3 |pages=904–906 |date=March 2015 |pmid=25354145 |doi=10.1038/jid.2014.465 |url=}}</ref>
 
*Prevalence can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.<ref name="pmid28230061" /><ref name="pmid25354145" />
*The [[prevalence]] of [[neurofibromatosis type 1]] is approximately 33.33 per 100,000 individuals [[Worldwide Protein Data Bank|worldwide]].<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid25354145">{{cite journal |vauthors=Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S |title=Incidence and mortality of neurofibromatosis: a total population study in Finland |journal=J. Invest. Dermatol. |volume=135 |issue=3 |pages=904–906 |date=March 2015 |pmid=25354145 |doi=10.1038/jid.2014.465 |url=}}</ref>
*[[Prevalence]] can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.<ref name="pmid28230061" /><ref name="pmid25354145" />
*The highest [[prevalence]] of [[neurofibromatosis type 1]] is in the [[population]] between 10 to 19 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" />


===Case-fatality rate/Mortality rate===
===Case-fatality rate/Mortality rate===
Neurofibromatosis type 1decreases life expectancy in approximately 15-20 years from a normal person.<ref name="pmid11283797">{{cite journal |vauthors=Rasmussen SA, Yang Q, Friedman JM |title=Mortality in neurofibromatosis 1: an analysis using U.S. death certificates |journal=Am. J. Hum. Genet. |volume=68 |issue=5 |pages=1110–8 |date=May 2001 |pmid=11283797 |pmc=1226092 |doi=10.1086/320121 |url=}}</ref><ref name="pmid214390342" />
Of the nearly 6.75 million deaths in the study period, 632 had a diagnosis of NF1, yet for nearly three-fourths of them the underlying cause was not coded as neurofibromatosis.<ref name="pmid214390342">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>


*In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%.
*Neurofibromatosis type 1 decreases [[life expectancy]] in approximately 15-20 years from a normal person.<ref name="pmid11283797">{{cite journal |vauthors=Rasmussen SA, Yang Q, Friedman JM |title=Mortality in neurofibromatosis 1: an analysis using U.S. death certificates |journal=Am. J. Hum. Genet. |volume=68 |issue=5 |pages=1110–8 |date=May 2001 |pmid=11283797 |pmc=1226092 |doi=10.1086/320121 |url=}}</ref><ref name="pmid214390342">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>
*The case-fatality rate/mortality rate of [disease name] is approximately [number range].
*The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.<ref name="pmid214390342" /><ref name="pmid214390343">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>
*The mean annual [[mortality rate]] associated with [[neurofibromatosis type 1]] is 0.092 per 100,000 people.<ref name="pmid214390343" />


===Age===
===Age===


* The median age of diagnosis for neurofibromatosis type 1 is usually around 20 years old, although it can range from 3 months to 60 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" />
*The [[median]] age of [[diagnosis]] for [[neurofibromatosis type 1]] is usually around 20 years old, although it can range from 3 months to 60 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" />
* Since its a hereditary disorder, patients of all age groups may develop neurofibromatosis type 1 symptoms.
*Since its a [[hereditary disorder]], patients of all [[age]] groups may develop [[neurofibromatosis type 1]] [[symptoms]].
* Prevalence of neurofibromatosis has been found to be increased in individuals born from parents with advanced age.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" />
*[[Prevalence]] of [[Neurofibromatosis type I|neurofibromatosis]]  has been found to be increased in individuals born from parents with [[Old age|advanced age]].<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid282300612">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid9358268">{{cite journal |vauthors=Bunin GR, Needle M, Riccardi VM |title=Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues |journal=Genet. Epidemiol. |volume=14 |issue=5 |pages=507–16 |date=1997 |pmid=9358268 |doi=10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y |url=}}</ref>
* The mean age of mothers who give to birth of a child with neurofibromatosis type 1 is 30 years , while the paternal age is 33.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics">{{cite web |url=https://jmg.bmj.com/content/37/8/632 |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland &#124; Journal of Medical Genetics |format= |work= |accessdate=}}</ref>
*The [[mean]] age of mothers who give to [[birth]] of a child with [[neurofibromatosis type 1]] is 30 years , while the paternal age is 33.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics">{{cite web |url=https://jmg.bmj.com/content/37/8/632 |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland &#124; Journal of Medical Genetics |format= |work= |accessdate=}}</ref>


===Race===
===Race===
ethnicity.n.<ref name="pmid28230061" /><ref name="pmid10991696">{{cite journal |vauthors=Poyhonen M, Kytölä S, Leisti J |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland |journal=J. Med. Genet. |volume=37 |issue=8 |pages=632–6 |date=August 2000 |pmid=10991696 |pmc=1734645 |doi=10.1136/jmg.37.8.632 |url=}}</ref><ref name="urlEurope PMC, Europe PMC">{{cite web |url=https://europepmc.org/article/med/125227 |title=Europe PMC, Europe PMC |format= |work= |accessdate=}}</ref><ref name="pmid6807042">{{cite journal |vauthors=Samuelsson B, Axelsson R |title=Neurofibromatosis. A clinical and genetic study of 96 cases in Gothenburg, Sweden |journal=Acta Derm Venereol Suppl (Stockh) |volume=95 |issue= |pages=67–71 |date=1981 |pmid=6807042 |doi= |url=}}</ref>


*There is no racial predilection to [disease name].
*There is no racial predilection to [[neurofibromatosis type 1]].<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?" />
*[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
*There seems to be a lower [[Incidence (epidemiology)|incidence]] of [[optic nerve glioma]] in African-American population.<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?">{{cite web |url=https://www.medscape.com/answers/1177266-103891/what-are-the-racial-predilections-for-neurofibromatosis-type-1-nf1 |title=What are the racial predilections for neurofibromatosis type 1 (NF1)? |format= |work= |accessdate=}}</ref>
 
===Gender===
===Gender===
*[Disease name] affects men and women equally.
 
*[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
*[[Neurofibromatosis type 1]] affects men and women equally.<ref name="urlwww.orpha.net">{{cite web |url=https://www.orpha.net/data/patho/Pro/en/Neurofibromatosis1-FRenPro185.pdf |title=www.orpha.net |format= |work= |accessdate=}}</ref>


===Region===
===Region===
*The majority of [disease name] cases are reported in [geographical region].


*[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
*The majority of [[neurofibromatosis type 1]] cases are reported in Israel.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid7853369">{{cite journal |vauthors=Garty BZ, Laor A, Danon YL |title=Neurofibromatosis type 1 in Israel: survey of young adults |journal=J. Med. Genet. |volume=31 |issue=11 |pages=853–7 |date=November 1994 |pmid=7853369 |pmc=1016658 |doi=10.1136/jmg.31.11.853 |url=}}</ref>
 
*The country with less cases of [[neurofibromatosis type 1]] reported is Denmark.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid14877597">{{cite journal |vauthors=BORBERG A |title=Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes |journal=Acta Psychiatr Neurol Scand Suppl |volume=71 |issue= |pages=1–239 |date=1951 |pmid=14877597 |doi= |url=}}</ref>
===Developed Countries===


===Developing Countries===
===Developing Countries===
Many countries lack a proper electronic patient record, so many times, researcher have to rely on death certificates and non-population-based cohorts to estimate risks.<ref name="pmid28230061" /><ref name="pmid21439034">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>
Our linkage studies showed that linked markers/haplotypes show the same result as careful clinical examination in familial cases of NF1, although contradictory results were obtained in two families where linkage data showed the NF1 risk haplotype in a healthy child of an affected parent. One explanation may be that the children were affected but were still at a presymptomatic stage. This would be exceptional, as all our affected cases (reported separately) had developed café au lait macules by the age of 5 years (96% of all patients), and similar observations have been made in earlier reports.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid3145091">{{cite journal |vauthors=Huson SM, Harper PS, Compston DA |title=Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales |journal=Brain |volume=111 ( Pt 6) |issue= |pages=1355–81 |date=December 1988 |pmid=3145091 |doi=10.1093/brain/111.6.1355 |url=}}</ref> Another explanation would be that even though the affected parents in both families fulfilled the NIH diagnostic criteria for NF1 (in the first family CFS and freckles, and in the second family neurofibromas and Lisch nodules), they both have another type of NF which is not linked to the ''NF1'' gene. A third explanation would be mosaicism in a parent with NF1 in whom some of the germ cells do not carry the ''NF1'' mutation. A fourth explanation would be non-penetrance of the''NF1'' mutation in the children in question, which has previously been reported in only three cases, a 50 year old woman who had an affected brother, son, and grandson,<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid8825042" /> a 45 year old man with an affected mother and daughter,<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid8825042">{{cite journal |vauthors=Shen MH, Harper PS, Upadhyaya M |title=Molecular genetics of neurofibromatosis type 1 (NF1) |journal=J. Med. Genet. |volume=33 |issue=1 |pages=2–17 |date=January 1996 |pmid=8825042 |pmc=1051805 |doi=10.1136/jmg.33.1.2 |url=}}</ref> and a subject with an affected father and two affected daughters.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid3105393">{{cite journal |vauthors=Spence MA, Parry DM, Bader JL, Marazita ML, Bocian M, Funderburk SJ, Mulvihill JJ, Sparkes RS |title=Genetic linkage analysis of neurofibromatosis |journal=Ann. N. Y. Acad. Sci. |volume=486 |issue= |pages=287–92 |date=1986 |pmid=3105393 |doi=10.1111/j.1749-6632.1986.tb48081.x |url=}}</ref> Although non-paternity is not probable, one should exclude it with other markers. The finding of possible non-penetrance in the two families in this series will be finally answered only after the families' ''NF1''mutation has been found.
_CausesOne of the potential etiologies for non-familial Neurofibromatosis Type 1 (NF1) is increasing parental age. We sought to evaluate recent evidence for parental age effects in NF1 in a large study. Individuals with NF1 and a comparison group from the U.S. general population born between 1994 and 2012 were ascertained from the NF1 Patient Registry Initiative (NPRI) and the National Center for Vital Statistics, respectively.<ref name="pmid25523354" /><ref name="pmid28230061" />


Sporadic neurofibromatosis 1 (NF1) occurs in the absence of a family history of the disease and usually results from a new mutation in the germ cell of one of the parents, most commonly the father.<ref name="pmid9358268" /><ref name="pmid28230061" />
*Many countries lack a proper electronic patient [[Medical Record|record]], so many times, [[researcher]] have to rely on [[death certificate]]<nowiki/>s and non-population-based [[Cohort study|cohorts]] to estimate risks of [[neurofibromatosis type 1]].<ref name="pmid28230061" /><ref name="pmid21439034">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref>


50% of cases of neurofibromatosis type 1 are familial (inherited) and the remainder arise from a de novo NF1 mutation.<ref name="pmid28230061" /><ref name="pmid18956796">{{cite journal |vauthors=McKeever K, Shepherd CW, Crawford H, Morrison PJ |title=An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age |journal=Ulster Med J |volume=77 |issue=3 |pages=160–3 |date=September 2008 |pmid=18956796 |pmc=2604471 |doi= |url=}}</ref>
<br />
<br />
==References==
==References==

Latest revision as of 14:23, 1 September 2020

Neurofibromatosis type 1 Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Neurofibromatosis type 1 from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Neurofibromatosis type 1 epidemiology and demographics On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Neurofibromatosis type 1 epidemiology and demographics

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Neurofibromatosis type 1 epidemiology and demographics

CDC on Neurofibromatosis type 1 epidemiology and demographics

Neurofibromatosis type 1 epidemiology and demographics in the news

Blogs on Neurofibromatosis type 1 epidemiology and demographics

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Neurofibromatosis type 1 epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.

Overview

Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.

The country with major prevalence of neurofibromatosis type 1 reported is Israel, while the one with the least reported in Denmark.

Older paternal age may increase the chances for de novo mutations in NF1 gene.

There is no race or gender predilection for neurofibromatosis type 1.

Epidemiology and Demographics

Incidence

Prevalence

Case-fatality rate/Mortality rate

Age

Race

Gender

Region

Developing Countries


References

  1. ↑ 1.0 1.1 1.2 1.3 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics".
  3. ↑ Riccardi, Vincent M. (1987). "Neurofibromatosis". Neurologic Clinics. 5 (3): 337–349. doi:10.1016/S0733-8619(18)30909-5. ISSN 0733-8619.
  4. ↑ 4.0 4.1 Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S (March 2015). "Incidence and mortality of neurofibromatosis: a total population study in Finland". J. Invest. Dermatol. 135 (3): 904–906. doi:10.1038/jid.2014.465. PMID 25354145.
  5. ↑ Rasmussen SA, Yang Q, Friedman JM (May 2001). "Mortality in neurofibromatosis 1: an analysis using U.S. death certificates". Am. J. Hum. Genet. 68 (5): 1110–8. doi:10.1086/320121. PMC 1226092. PMID 11283797.
  6. ↑ 6.0 6.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
  7. ↑ 7.0 7.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
  8. ↑ Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
  9. ↑ Bunin GR, Needle M, Riccardi VM (1997). "Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues". Genet. Epidemiol. 14 (5): 507–16. doi:10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y. PMID 9358268.
  10. ↑ 10.0 10.1 "What are the racial predilections for neurofibromatosis type 1 (NF1)?".
  11. ↑ "www.orpha.net" (PDF).
  12. ↑ Garty BZ, Laor A, Danon YL (November 1994). "Neurofibromatosis type 1 in Israel: survey of young adults". J. Med. Genet. 31 (11): 853–7. doi:10.1136/jmg.31.11.853. PMC 1016658. PMID 7853369.
  13. ↑ BORBERG A (1951). "Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes". Acta Psychiatr Neurol Scand Suppl. 71: 1–239. PMID 14877597.
  14. ↑ Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Neurofibromatosis_type_1_epidemiology_and_demographics&oldid=1658404"