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Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M. Fortea J, et al. Lancet Neurol. 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. Lancet Neurol. 2021. PMID: 34687637 Free PMC article. Review.
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symptoms are overshadowed by the intellectual disability associated with Down syndrome. In people with Down syndrome, fluid and im …
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symp …
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestat …
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and de …
[Atypical deletions in Williams-Beuren syndrome].
Ramírez-Velazco A, Domínguez-Quezada MG. Ramírez-Velazco A, et al. Rev Med Inst Mex Seguro Soc. 2017 Sep-Oct;55(5):615-620. Rev Med Inst Mex Seguro Soc. 2017. PMID: 29193944 Free article. Review. Spanish.
The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. ...The SWB phenotype is characterized by neonatal hypercalcemia, me …
The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20, …
Tau PET Imaging for Staging of Alzheimer's Disease in Down Syndrome.
Rafii MS. Rafii MS. Dev Neurobiol. 2019 Jul;79(7):711-715. doi: 10.1002/dneu.22658. Epub 2018 Dec 16. Dev Neurobiol. 2019. PMID: 30536948 Review.
Alzheimer's disease (AD) pathology and early-onset dementia develop almost universally in Down syndrome (DS). ...The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal assessment of the spatia …
Alzheimer's disease (AD) pathology and early-onset dementia develop almost universally in Down syndrome (DS). ...The development of r …
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). …
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound inte …
Genetics of the Costello syndrome.
Lurie IW. Lurie IW. Am J Med Genet. 1994 Sep 1;52(3):358-9. doi: 10.1002/ajmg.1320520321. Am J Med Genet. 1994. PMID: 7528974 Review.
Although Costello syndrome is considered to be an autosomal recessive disorder, review of 20 families demonstrated that the 37 sibs of the probands were all normal. ...Even if there were no normal offspring in these latter families, the occurrence of the Costello sy …
Although Costello syndrome is considered to be an autosomal recessive disorder, review of 20 families demonstrated that the 37 …
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P. Castori M, et al. Eur J Med Genet. 2013 Oct;56(10):570-6. doi: 10.1016/j.ejmg.2013.08.004. Epub 2013 Aug 27. Eur J Med Genet. 2013. PMID: 23994350 Review.
Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, althoug …
Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal pha …
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO. Lee J, et al. Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4. Mol Med Rep. 2016. PMID: 27150940 Free PMC article. Review.
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been re …
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients d …
[Neurofibromatosis in children. Our experience].
López-Pisón J, Cuadrado-Martín M, Boldova-Aguar MC, Muñoz-Mellado A, Cabrerizo de Diago R, Peña-Segura JL. López-Pisón J, et al. Rev Neurol. 2003 Nov 1-15;37(9):820-5. Rev Neurol. 2003. PMID: 14606048 Free article. Review. Spanish.
INTRODUCTION: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. ...Brain areas with hypersignals were found in 71% of the cases submitted to mag …
INTRODUCTION: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a high index of spontaneous mutations and …
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
Moog U, van Mierlo I, van Schrojenstein Lantman-de Valk HM, Spaapen L, Maaskant MA, Curfs LM. Moog U, et al. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):293-301. doi: 10.1002/ajmg.c.30142. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640047 Review.
Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N-acetyl-alpha-D-glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. ...In order to increase knowledge on the adult phenotype and natural hi …
Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N-acetyl-alpha-D-glucosaminidase …
11 results