76:
48:
509:
Although the prevalence and incidence are unknown, FTDP-17 is a very rare condition. Over 100 families worldwide have been identified with 38 different tau gene mutations. The FTDP-17 phenotype varies not only between families with different mutations but also between and within families with
273:
FTDP-17 usually appears gradually. Individuals who have reached the fully developed stage of the disease exhibit an array of symptoms that include at least two of the three cardinal features of FTDP-17, which include behavioral and personality disturbances,
828:
813:
798:
281:
FTDP-17 clinical features differ significantly among affected individuals, regardless of whether they inherit the same or distinct mutations. Even members of the same family, for instance, can have different clinical presentations.
501:
Individual patients' and genetic kindreds' prognoses and rates of disease progression vary greatly, ranging from several months to several years, and in exceptional cases, as long as two decades.
430:
mutations account for up to 50% of FTDP-17 cases. More than 50 pathogenic MAPT mutations have been identified. FTDP-17 is inherited in an autosomal dominant manner.
450:
A combination of characteristic clinical and pathological features, as well as molecular genetic analysis, is required for a definitive diagnosis of FTDP-17.
317:
function are relatively preserved during the early stages of the disease, despite cognitive disturbances. Initially, progressive speech difficulties with
261:, and has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the
936:
438:
The disorder's pathogenetic mechanisms are believed to be associated with a changed ratio of tau isoforms or with tau's capacity to bind
843:
585:
Wszolek, Zbigniew K; Tsuboi, Yoshio; Ghetti, Bernardino; Pickering-Brown, Stuart; Baba, Yasuhiko; Cheshire, William P (August 9, 2006).
326:
314:
466:
356:
176:
665:"Refining Frontotemporal Dementia With Parkinsonism Linked to Chromosome 17: Introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)"
534:
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351:
can be the first symptom of the disease, and it is noteworthy that some FTDP-17 patients have been misdiagnosed with
235:
470:
458:
188:
180:
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854:
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should be provided to affected and at-risk individuals; penetrance is incomplete for the majority of subtypes.
482:
474:
242:
196:
184:
172:
478:
408:
352:
192:
167:
113:
41:
FTDP-17, Frontotemporal dementia with parkinsonism-17, Familial Pick's disease, Wilhelmsen-Lynch disease.
93:
807:
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75:
832:
322:
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117:
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84:
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In addition to other manifestations, the behavioral and personality abnormalities may include
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616:
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473:(CBD) in the absence of a positive family history or molecular genetic data. Other familial
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155:
97:
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47:
837:
756:
721:
697:
621:
586:
930:
738:
286:
258:
159:
105:
89:
636:
Mitra K, Gangopadhaya PK, Das SK (Jun 2003). "Parkinsonism plus syndrome—a review".
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141:
870:
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306:
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688:
612:
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587:"Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)"
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appears later in the progression of the illness or not at all. FTDP-17
17:
914:
817:
802:
493:
Currently, treatment for FTDP-17 is only symptomatic and supportive.
404:
384:
380:
290:
535:"Frontotemporal dementia with parkinsonism-17: MedlinePlus Genetics"
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affecting both axial and appendicular musculature, a lack of
310:
254:
848:
246:
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Frontotemporal dementia and parkinsonism linked to chromosome 17
33:
Frontotemporal dementia and parkinsonism linked to chromosome 17
720:
Siuda, Joanna; Fujioka, Shinsuke; Wszolek, Zbigniew K. (2014).
218:
Estimated to affect 1 in 1 million people in the
Netherlands.
722:"Parkinsonian syndrome in familial frontotemporal dementia"
387:
therapy. Other motor disturbances seen in FTDP-17 include
337:, verbal and vocal perseverations develop. Eventually,
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891:
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663:Boeve, Bradley F.; Hutton, Mike (1 April 2008).
325:disorders can be seen. Memory, orientation, and
263:International Consensus Conference in Ann Arbor
597:(1). Springer Science and Business Media LLC.
305:, illicit drug addiction, verbal and physical
529:
527:
525:
523:
457:Clinically, FTDP-17 may resemble a number of
8:
781:
74:
46:
29:
755:
737:
696:
620:
602:
383:, as well as poor or no response to
329:functions deteriorate as a result, while
245:. FTDP-17 is caused by mutations in the
519:
461:. FTDP-17 is frequently confused with
391:unrelated to medication, supranuclear
442:and facilitate microtubule assembly.
92:, inappropriate emotional responses,
7:
906:MAPT-Related Frontotemporal Dementia
726:Parkinsonism & Related Disorders
313:behaviors. Memory, orientation, and
55:This condition is inherited in an
25:
591:Orphanet Journal of Rare Diseases
359:. However, in some families, the
739:10.1016/j.parkreldis.2014.06.004
367:is distinguished by symmetrical
467:progressive supranuclear palsy
357:progressive supranuclear palsy
210:and symptomatic interventions.
177:progressive supranuclear palsy
1:
407:, eyelid closing and opening
937:Neurodegenerative disorders
732:(9). Elsevier BV: 957–964.
485:(MSA) should be ruled out.
968:
459:neurodegenerative diseases
156:molecular genetic analysis
681:10.1001/archneur.65.4.460
471:corticobasal degeneration
278:, and motor dysfunction.
189:dementia with Lewy bodies
181:corticobasal degeneration
54:
45:
475:frontotemporal dementias
249:(microtubule associated
185:Parkinson-plus syndromes
483:multiple system atrophy
395:, both lower and upper
243:Parkinson plus syndrome
197:multiple system atrophy
604:10.1186/1750-1172-1-30
403:, postural and action
253:) gene located on the
168:Differential diagnosis
669:Archives of Neurology
265:, Michigan, in 1996.
510:the same mutations.
373:postural instability
118:semantic paraphasias
947:Cognitive disorders
479:Parkinson's disease
353:Parkinson's disease
295:compulsive behavior
193:Parkinson's disease
154:Clinical criteria,
132:Forties or fifties.
892:External resources
452:Genetic counseling
323:executive function
319:non-fluent aphasia
276:cognitive deficits
269:Signs and symptoms
233:autosomal dominant
90:Loss of inhibition
57:autosomal dominant
924:
923:
293:, poor judgment,
236:neurodegenerative
222:
221:
150:Diagnostic method
140:Mutations in the
27:Medical condition
16:(Redirected from
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341:and progressive
299:hyperreligiosity
116:-like features,
98:personal hygiene
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50:
30:
21:
967:
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942:Brain disorders
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638:Neurology India
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541:. March 1, 2017
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434:Pathophysiology
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785:Classification
778:
777:External links
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675:(4): 460–464.
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628:
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463:Pick's disease
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381:resting tremor
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173:Pick's disease
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106:hallucinations
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399:dysfunction,
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287:disinhibition
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259:chromosome 17
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160:brain imaging
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644:(2): 183–8.
641:
637:
631:
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590:
543:. Retrieved
538:
508:
505:Epidemiology
500:
492:
456:
449:
440:microtubules
437:
426:
397:motor neuron
369:bradykinesia
365:parkinsonism
361:parkinsonism
355:or sporadic
349:Parkinsonism
347:
327:visuospatial
315:visuospatial
284:
280:
272:
262:
228:
224:
223:
94:restlessness
901:GeneReviews
545:November 2,
539:MedlinePlus
465:, sporadic
251:protein tau
175:, sporadic
129:Usual onset
114:Parkinson's
38:Other names
931:Categories
882:2995675012
866:DiseasesDB
514:References
489:Management
481:(PD), and
469:(PSP), or
417:dysarthria
393:gaze palsy
307:aggression
303:alcoholism
208:Palliative
915:Q15043641
877:SNOMED CT
748:1353-8020
689:0003-9942
613:1750-1172
497:Prognosis
446:Diagnosis
413:dysphagia
401:myoclonus
335:palilalia
331:echolalia
239:tauopathy
215:Frequency
204:Treatment
122:echolalia
110:delusions
70:Neurology
65:Specialty
952:Dementia
766:24998994
707:18413467
650:14570999
389:dystonia
385:levodopa
377:rigidity
345:set in.
343:dementia
231:) is an
102:dementia
85:Symptoms
911:Scholia
860:D057180
808:8A00.1Y
757:4160731
698:2746630
622:1563447
409:apraxia
405:tremors
311:abusive
229:FTDP-17
59:manner.
18:FTDP-17
849:600274
838:331.19
764:
754:
746:
705:
695:
687:
648:
619:
611:
415:, and
339:mutism
309:, and
291:apathy
195:, and
158:, and
137:Causes
120:, and
72:
871:10034
823:G31.8
423:Cause
255:q arm
144:gene.
855:MeSH
844:OMIM
833:9-CM
762:PMID
744:ISSN
703:PMID
685:ISSN
646:PMID
609:ISSN
547:2023
428:MAPT
321:and
247:MAPT
241:and
142:MAPT
829:ICD
814:ICD
799:ICD
752:PMC
734:doi
693:PMC
677:doi
617:PMC
599:doi
257:of
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791:D
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227:(
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20:)
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