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[PMID]: 29390431 [Au] Autor: Jang SH; Seo JP [Ad] Endereço: Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University. [Ti] Título: Limb-kinetic apraxia in a patient with mild traumatic brain injury: A case report. [So] Source: Medicine (Baltimore);96(51):e9008, 2017 Dec. [Is] ISSN: 1536-5964 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: RATIONALE: We report on a patient who developed limb-kinetic apraxia (LKA) due to an injured corticofugal tract (CFT) from the secondary motor area following mild traumatic brain injury (TBI), demonstrated on diffusion tensor tractography (DTT). PATIENT CONCERNS: She was struck in the right leg by a sedan at a crosswalk and fell to the ground. She lost consciousness and experienced post-traumatic amnesia for approximately ten minutes. She was obliged to wear a cast for a left humerus fracture for two months, and she found she could not move her left hand quickly with intention after removal of the cast; consequently her left hand was almost non-functional. When she visited the rehabilitation department of a university hospital two years after the crash, she had mild weakness of the left upper extremity (manual muscle test: 4/5). However, the movements of the left hand were slow, clumsy, and mutilated when executing grasp-release movements of her left hand. DIAGNOSES: A 44-year-old female suffered head trauma resulting from a pedestrian car accident. INTERVENTIONS: When she extended all her left fingers, it took approximately eight seconds at her fastest speed to perform the pattern extending from the thumb to little finger sequentially. OUTCOMES: On two-year DTT, narrowing and partial tearing was observed in the right supplementary motor area (SMA)-CFT. LESSONS: Injury of the right SMA-CFT was demonstrated in a patient with LKA in a hand following mild TBI. Our results stress the need to evaluate the CFTs from the secondary motor area for patients with unexplained motor execution problems following mild TBI. [Mh] Termos MeSH primário: Ataxia/diagnóstico Lesões Encefálicas Traumáticas/complicações Córtex Motor/lesões [Mh] Termos MeSH secundário: Adulto Ataxia/complicações Ataxia/diagnóstico por imagem Diagnóstico Diferencial Imagem de Tensor de Difusão Feminino Seres Humanos Escala de Gravidade do Ferimento [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1802 [Cu] Atualização por classe: 180213 [Lr] Data última revisão: 180213 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 180203 [St] Status: MEDLINE [do] DOI: 10.1097/MD.0000000000009008

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[PMID]: 29253853 [Au] Autor: Dittmer KE; Jolly RD; Mayhew IG; Ridler AL; Chernyavtseva A; Garrick DJ; Blair HT [Ad] Endereço: Institute of Veterinary, Animal and Biomedical Sciences, Massey University, Palmerston North, New Zealand. [Ti] Título: Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. [So] Source: PLoS One;12(12):e0190030, 2017. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Familial episodic ataxia of lambs is a congenital transient autosomal dominant disorder of newborn lambs, with varying expressivity. Affected lambs show episodes of an asymmetric ataxic gait, base-wide extensor hypertonia of the thoracic limbs and flexor hypertonia of the pelvic limbs. The aim of the study was to determine the genetic variant causing familial episodic ataxia in lambs. Using whole genome sequencing of two half-sib affected lambs, their sire, and their two normal dams, a heterozygous C>T transition at OAR10:77593415 (Oar_v3.1) in exon 1 of the fibroblast growth factor 14 (FGF14) gene (c.46C>T) was identified. The c.46C>T transition resulted in a premature stop codon at position 16 of the 247 amino acid FGF14 protein (p.Q16*). PCR and Sanger sequencing was used to genotype an additional 20 clinically affected animals, demonstrating all lambs carried the c.46C>T variant but 1 clinically more severely affected inbred lamb was homozygous (TT). A further 11 unrelated normal ewes were positionally sequenced, none of which had the variant, while in 18 lambs of unknown status born over 2 years of breeding trials six lambs were found to have the c.46C>T variant, likely clinically unidentified heterozygotes due to the variable expressivity, while 12 did not. In conclusion, familial episodic ataxia of lambs is potentially associated with a c.46C>T variant in the FGF14 gene. Further research is required into the mechanism behind the apparent recovery of lambs. [Mh] Termos MeSH primário: Ataxia/genética Fatores de Crescimento de Fibroblastos/genética Mutação Carneiro Doméstico/genética [Mh] Termos MeSH secundário: Animais Cruzamento Códon sem Sentido Modelos Animais de Doenças Éxons Feminino Genótipo Homozigoto Masculino Análise de Sequência de DNA Ovinos [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Codon, Nonsense); 0 (fibroblast growth factor 14); 62031-54-3 (Fibroblast Growth Factors) [Em] Mês de entrada: 1801 [Cu] Atualização por classe: 180112 [Lr] Data última revisão: 180112 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171219 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0190030

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[PMID]: 29245230 [Au] Autor: Jang SH; Kwon HG [Ad] Endereço: aDepartment of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, Gyeongsangbuk-dobDepartment of Physical Therapy, College of Health Sciences, Catholic University of Pusan, Pusan, Republic of Korea. [Ti] Título: Injury of the cortico-ponto-cerebellar tract in a patient with mild traumatic brain injury: A case report. [So] Source: Medicine (Baltimore);96(49):e8749, 2017 Dec. [Is] ISSN: 1536-5964 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: RATIONALE: We report on a patient with injury of the cortico-ponto-cerebellar tract (CPCT) following mild traumatic brain injury (TBI), diagnosed by diffusion tensor tractography (DTT). PATIENT CONCERNS: A 53-year-old female patient was injured in a car crash. While under treatment at a local medical center for headache, mild motor weakness, and cognitive impairment that developed following the car crash, she fell, hitting her head on the ground, about six weeks after the car crash. DIAGNOSES: Approximately three months after the car crash, she began to show tremor on both hands and mild truncal ataxia. Twenty months after the car crash, when she underwent neurological evaluation at the rehabilitation department of a university hospital, she presented with mild resting and intentional tremor on both hands, and mild truncal ataxia. INTERVENTIONS: N/A. OUTCOMES: On 20-month DTT, the left CPCT showed tearing at the level of the subcortical white matter and pons, and discontinuation at the cerebellar portion. However, the integrity of the DRTT was well-preserved in both hemispheres. LESSONS: Using DTT, injury of the CPCT was demonstrated in a patient with ataxia and tremor following mild TBI. [Mh] Termos MeSH primário: Ataxia/etiologia Lesões Encefálicas Traumáticas/complicações Cerebelo/lesões Ponte/lesões Substância Branca/lesões [Mh] Termos MeSH secundário: Feminino Seres Humanos Meia-Idade [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1712 [Cu] Atualização por classe: 171222 [Lr] Data última revisão: 171222 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 171217 [St] Status: MEDLINE [do] DOI: 10.1097/MD.0000000000008749

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[PMID]: 28466625 [Au] Autor: Gross I; Gross-Tsur V [Ad] Endereço: Department of Pediatrics, Hadassah Medical Center, Jerusalem, Israel. [Ti] Título: Paroxysmal Tonic Upward Gaze at Adolescence: A Girl with Prader-Willi Syndrome. [So] Source: Isr Med Assoc J;18(11):703-704, 2016 Nov. [Is] ISSN: 1565-1088 [Cp] País de publicação: Israel [La] Idioma: eng [Mh] Termos MeSH primário: Ataxia/diagnóstico Transtornos dos Movimentos/diagnóstico Transtornos da Motilidade Ocular/diagnóstico Síndrome de Prader-Willi/diagnóstico [Mh] Termos MeSH secundário: Adolescente Fatores Etários Ataxia/fisiopatologia Feminino Seres Humanos Transtornos dos Movimentos/fisiopatologia Transtornos da Motilidade Ocular/fisiopatologia Síndrome de Prader-Willi/fisiopatologia [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1711 [Cu] Atualização por classe: 171128 [Lr] Data última revisão: 171128 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170504 [St] Status: MEDLINE

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[PMID]: 29070031 [Au] Autor: Wessel K; Suleiman J; Khalaf TE; Kishore S; Rolfs A; El-Hattab AW [Ad] Endereço: Centogene AG, Schillingallee, Rostock, Germany. [Ti] Título: 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. [So] Source: BMC Med Genet;18(1):119, 2017 Oct 25. [Is] ISSN: 1471-2350 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23.2q23.3 located distal to the TBX2 and TBX4 region. CASE PRESENTATION: We report a 7.5-year-old boy with speech and language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, and behavior disturbances (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movements). Chromosomal microarray revealed a 2-Mb duplication of chromosome 17q23.2q23.3. Both parents did not have the duplication indicating that this duplication is de novo in the child. CONCLUSIONS: The duplicated region encompasses 16 genes. It is possible that increased dosage of one or more genes in this region is responsible for the observed phenotype. The TANC2 gene is one of the genes in the duplicated region.It encodes a member of the TANC (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing) family which includes TANC1 and TANC2. These proteins are highly expressed in brain and play major roles in synapsis regulation. Hence, it is suggestive that TANC2 is the likely candidate gene responsible for the observed phenotype as an increased TANC2 dosage can potentially alter synapsis, resulting in neuronal dysfunction and the neurobehavioral phenotype observed in this child with 17q23.2q23.3 duplication. [Mh] Termos MeSH primário: Ataxia/genética Duplicação Cromossômica Cromossomos Humanos Par 17/química Deficiências do Desenvolvimento/genética Transtornos de Aprendizagem/genética Transtornos Psicomotores/genética Distúrbios da Fala/genética [Mh] Termos MeSH secundário: Ataxia/diagnóstico Ataxia/fisiopatologia Criança Deficiências do Desenvolvimento/diagnóstico Deficiências do Desenvolvimento/fisiopatologia Eletroencefalografia Dosagem de Genes Expressão Gênica Seres Humanos Transtornos de Aprendizagem/diagnóstico Transtornos de Aprendizagem/fisiopatologia Masculino Fenótipo Proteínas/genética Transtornos Psicomotores/diagnóstico Transtornos Psicomotores/fisiopatologia Convulsões/diagnóstico Convulsões/genética Convulsões/fisiopatologia Comportamento Autodestrutivo/diagnóstico Comportamento Autodestrutivo/genética Comportamento Autodestrutivo/fisiopatologia Distúrbios da Fala/diagnóstico Distúrbios da Fala/fisiopatologia [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Proteins); 0 (TANC2 protein, human) [Em] Mês de entrada: 1711 [Cu] Atualização por classe: 171102 [Lr] Data última revisão: 171102 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171027 [St] Status: MEDLINE [do] DOI: 10.1186/s12881-017-0479-3

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[PMID]: 29068990 [Au] Autor: Jang SH; Kwon HG [Ad] Endereço: aDepartment of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, Daegu bDepartment of Physical Therapy, College of Health Sciences, Catholic University of Pusan, Republic of Korea. [Ti] Título: Aggravation of an injured dentato-rubro-thalamic tract in a patient with mild traumatic brain injury: A case report. [So] Source: Medicine (Baltimore);96(43):e8253, 2017 Oct. [Is] ISSN: 1536-5964 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: RATIONALE: We report on a patient with mild traumatic brain injury (TBI) by follow-up diffusion tensor tractography (DTT), and observed for approximately nine monthsby serial diffusion tensor tractography (DTT). PATIENT CONCERNS: A 66-year-old male patient was injured in a car crash. Approximately four weeks after the crash, he developed a tremor in the right hand and leg. His symptoms worsened over time. DIAGNOSES: Approximately six months after the crash, he developed a mild tremor in the left hand. Nine months after the crash, he manifested severe tremor in his right hand, mild resting and intentional tremor in his left hand and both legs, and mild trunkal ataxia. INTERVENTIONS: N/A. OUTCOMES: On 3-week DTT, well reconstructed DRTTs were observed in both hemispheres, except for the thinned lower portion of the right DRTT. On 9-month DTT, the right lower DRTT had thinned compared with the 3-week DTT and showed a disruption at the upper portion. The left DRTT showed thinning in the lower portion and tearing in the upper portion compared with 3-week DTT. LESSONS: Aggravation of an injured DRTT was demonstrated in a patient with mild TBI, using serial DTT examination. [Mh] Termos MeSH primário: Concussão Encefálica/complicações Núcleos Cerebelares/lesões Tálamo/lesões [Mh] Termos MeSH secundário: Acidentes de Trânsito Idoso Ataxia/etiologia Concussão Encefálica/diagnóstico por imagem Núcleos Cerebelares/diagnóstico por imagem Imagem de Tensor de Difusão Vias Eferentes/diagnóstico por imagem Vias Eferentes/lesões Seguimentos Mãos/fisiopatologia Seres Humanos Perna (Membro)/fisiopatologia Masculino Tálamo/diagnóstico por imagem Tremor/etiologia [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171123 [Lr] Data última revisão: 171123 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 171026 [St] Status: MEDLINE [do] DOI: 10.1097/MD.0000000000008253

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[PMID]: 28857524 [Au] Autor: Lechpammer M; Martínez Cerdeno V; Hunsaker MR; Hah M; Gonzales H; Tisch S; Joffe R; Pamphlett R; Tassone F; Hagerman PJ; Bolitho SJ; Hagerman RJ [Ad] Endereço: Mirna Lechpammer, Department of Pathology and Laboratory Medicine, UC Davis Health System, 4400 V St. Sacramento, CA 95817, USA, mlechpammer@ucdavis.edu. [Ti] Título: Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. [So] Source: Croat Med J;58(4):310-315, 2017 Aug 31. [Is] ISSN: 1332-8166 [Cp] País de publicação: Croatia [La] Idioma: eng [Ab] Resumo: This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described. Histopathological features (rimmed vacuoles) consistent with clinically defined IBM were detected in both presented cases. Postmortem testing in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 71 CGG repeats who had a son with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM. [Mh] Termos MeSH primário: Ataxia/complicações Síndrome do Cromossomo X Frágil/complicações Miosite de Corpos de Inclusão/complicações Tremor/complicações [Mh] Termos MeSH secundário: Idoso Evolução Fatal Feminino Seres Humanos Masculino Meia-Idade [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170908 [Lr] Data última revisão: 170908 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170901 [St] Status: MEDLINE

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[PMID]: 28857179 [Au] Autor: Androsova G; Krause R; Borghei M; Wassenaar M; Auce P; Avbersek A; Becker F; Berghuis B; Campbell E; Coppola A; Francis B; Wolking S; Cavalleri GL; Craig J; Delanty N; Koeleman BPC; Kunz WS; Lerche H; Marson AG; Sander JW; Sills GJ; Striano P; Zara F; Sisodiya SM; Depondt C; EpiPGX Consortium [Ad] Endereço: Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [Ti] Título: Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. [So] Source: Epilepsia;58(10):1734-1741, 2017 Oct. [Is] ISSN: 1528-1167 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: OBJECTIVE: Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a common epilepsy syndrome that is often poorly controlled by antiepileptic drug (AED) treatment. Comparative AED effectiveness studies in this condition are lacking. We report retention, efficacy, and tolerability in a cohort of patients with MTLE-HS. METHODS: Clinical data were collected from a European database of patients with epilepsy. We estimated retention, 12-month seizure freedom, and adverse drug reaction (ADR) rates for the 10 most commonly used AEDs in patients with MTLE-HS. RESULTS: Seven hundred sixty-seven patients with a total of 3,249 AED trials were included. The highest 12-month retention rates were observed with carbamazepine (85.9%), valproate (85%), and clobazam (79%). Twelve-month seizure freedom rates varied from 1.2% for gabapentin and vigabatrin to 11% for carbamazepine. Response rates were highest for AEDs that were prescribed as initial treatment and lowest for AEDs that were used in a third or higher instance. ADRs were reported in 47.6% of patients, with the highest rates observed with oxcarbazepine (35.7%), topiramate (30.9%), and pregabalin (27.4%), and the lowest rates with clobazam (6.5%), gabapentin (8.9%), and lamotrigine (16.6%). The most commonly reported ADRs were lethargy and drowsiness, dizziness, vertigo and ataxia, and blurred vision and diplopia. SIGNIFICANCE: Our results did not demonstrate any clear advantage of newer versus older AEDs. Our results provide useful insights into AED retention, efficacy, and ADR rates in patients with MTLE-HS. [Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico Epilepsia do Lobo Temporal/tratamento farmacológico Hipocampo/patologia [Mh] Termos MeSH secundário: Adolescente Adulto Idoso Aminas/uso terapêutico Ataxia/induzido quimicamente Benzodiazepinas/uso terapêutico Carbamazepina/análogos & derivados Carbamazepina/uso terapêutico Ácidos Cicloexanocarboxílicos/uso terapêutico Bases de Dados Factuais Diplopia/induzido quimicamente Tontura/induzido quimicamente Epilepsia do Lobo Temporal/patologia Epilepsia do Lobo Temporal/fisiopatologia Feminino Frutose/análogos & derivados Frutose/uso terapêutico Seres Humanos Letargia/induzido quimicamente Masculino Meia-Idade Pregabalina/uso terapêutico Estudos Retrospectivos Esclerose Resultado do Tratamento Triazinas/uso terapêutico Ácido Valproico/uso terapêutico Vertigem/induzido quimicamente Vigabatrina/uso terapêutico Transtornos da Visão/induzido quimicamente Adulto Jovem Ácido gama-Aminobutírico/uso terapêutico [Pt] Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Amines); 0 (Anticonvulsants); 0 (Cyclohexanecarboxylic Acids); 0 (Triazines); 0H73WJJ391 (topiramate); 12794-10-4 (Benzodiazepines); 2MRO291B4U (clobazam); 30237-26-4 (Fructose); 33CM23913M (Carbamazepine); 55JG375S6M (Pregabalin); 56-12-2 (gamma-Aminobutyric Acid); 614OI1Z5WI (Valproic Acid); 6CW7F3G59X (gabapentin); GR120KRT6K (Vigabatrin); U3H27498KS (lamotrigine); VZI5B1W380 (oxcarbazepine) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171010 [Lr] Data última revisão: 171010 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170901 [St] Status: MEDLINE [do] DOI: 10.1111/epi.13871

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[PMID]: 28815574 [Au] Autor: Lawerman TF; Brandsma R; Burger H; Burgerhof JGM; Sival DA; the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society [Ad] Endereço: Department of Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. [Ti] Título: Age-related reference values for the pediatric Scale for Assessment and Rating of Ataxia: a multicentre study. [So] Source: Dev Med Child Neurol;59(10):1077-1082, 2017 Oct. [Is] ISSN: 1469-8749 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: AIM: For reliable assessment of ataxia severity in children, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society aimed to validate the Scale for Assessment and Rating of Ataxia (SARA) according to age. METHOD: Twenty-two pediatric ataxia experts from 15 international institutions scored videotaped SARA performances in 156 typically developing children (4-16y: m/f=1; 12 children per year of age; including nine different nationalities). We determined age-dependency and reliability of pediatric SARA scores by a mixed model. RESULTS: In typically developing children, age was the only variable that revealed a relationship with SARA scores (p<0.001). The youngest children revealed the highest scores and the highest variation in scores (<8y; p<0.001). After 11 years of age, pediatric scores approached adult outcomes. The interobserver agreement of total SARA scores was substantial with an intraclass correlation coefficient of 0.63 (95% confidence interval 0.56-0.69; p<0.001). INTERPRETATION: In typically developing European children, both SARA scores and interobserver agreement are age-dependent. For reliable interpretation of pediatric SARA scores, consideration of the underlying test construct appears prudent. These data will hopefully contribute to a correct and uniform interpretation of longitudinal SARA scores from childhood to adulthood. [Mh] Termos MeSH primário: Ataxia/diagnóstico Índice de Gravidade de Doença [Mh] Termos MeSH secundário: Adolescente Fatores Etários Criança Desenvolvimento Infantil Pré-Escolar Europa (Continente) Feminino Marcha Seres Humanos Masculino Variações Dependentes do Observador Valores de Referência [Pt] Tipo de publicação: JOURNAL ARTICLE; MULTICENTER STUDY [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170929 [Lr] Data última revisão: 170929 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170818 [St] Status: MEDLINE [do] DOI: 10.1111/dmcn.13507

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[PMID]: 28814538 [Au] Autor: Wheeler A; Raspa M; Hagerman R; Mailick M; Riley C [Ad] Endereço: RTI International, Research Triangle Park, North Carolina; acwheeler@rti.org. [Ti] Título: Implications of the Premutation for Children, Adolescents, Adults, and Their Families. [So] Source: Pediatrics;139(Suppl 3):S172-S182, 2017 Jun. [Is] ISSN: 1098-4275 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: BACKGROUND AND OBJECTIVES: Given the nature of gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an premutation, including possible implications into adulthood. METHODS: A structured electronic literature search was conducted on pre- and full mutations, yielding a total of 306 articles examined. Of these, 116 focused primarily on the premutation and are included in this review. RESULTS: Based on the literature review, 5 topic areas are discussed: genetics and epidemiology; phenotypic characteristics of individuals with the premutation; implications for carrier parents of children with FXS; implications for the extended family; and implications for pediatricians. CONCLUSIONS: Although the premutation phenotype is typically less severe in clinical presentation than in FXS, premutation carriers are much more common and are therefore more likely to be seen in a typical pediatric practice. In addition, there is a wide range of medical, cognitive/developmental, and psychiatric associated features that individuals with a premutation are at increased risk for having, which underscores the importance of awareness on the part of pediatricians in identifying and monitoring premutation carriers and recognizing the impact this identification may have on family members. [Mh] Termos MeSH primário: Expansão das Repetições de DNA/genética Proteína do X Frágil de Retardo Mental/genética Síndrome do Cromossomo X Frágil/genética Predisposição Genética para Doença/genética [Mh] Termos MeSH secundário: Adolescente Adulto Ataxia/diagnóstico Ataxia/genética Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico Transtorno do Deficit de Atenção com Hiperatividade/genética Transtorno do Espectro Autista/diagnóstico Transtorno do Espectro Autista/genética Criança Comorbidade Variações do Número de Cópias de DNA/genética Função Executiva Feminino Síndrome do Cromossomo X Frágil/diagnóstico Síndrome do Cromossomo X Frágil/epidemiologia Triagem de Portadores Genéticos Testes Genéticos Seres Humanos Lactente Fenótipo Insuficiência Ovariana Primária/diagnóstico Insuficiência Ovariana Primária/genética Fatores de Risco Tremor/diagnóstico Tremor/genética Repetições de Trinucleotídeos/genética [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (FMR1 protein, human); 139135-51-6 (Fragile X Mental Retardation Protein) [Em] Mês de entrada: 1708 [Cu] Atualização por classe: 171116 [Lr] Data última revisão: 171116 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170818 [St] Status: MEDLINE [do] DOI: 10.1542/peds.2016-1159D

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