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Neurologic Manifestations of Xeroderma Pigmentosum

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Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.

Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li, Hong Sang,

BackgroundXeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until they are adults due to a later onset of skin alterations.Case ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21:]

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A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D.

Chi-Bao Bui, Thao Thi Phuong Duong, Vien The Tran, Thuy Thanh T Pham, Tung Vu, Gia Cac Chau, Thanh-Niem Van Vo, Vinh Nguyen, Dieu-Thuong Thi Trinh, Minh Van Hoang,

Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by ERCC2 mutations. ERCC2 encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, plays a critical role in ... Read more >>

Hum Genome Var (Human genome variation)
[2020, 7:2]

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Basal Cell Carcinoma with Xeroderma Pigmentosum in an 8-Year-old Girl.

Aditya Pratap Singh, Maryem Ansari, Arvind Kumar Shukla,

J Indian Assoc Pediatr Surg (Journal of Indian Association of Pediatric Surgeons)
[2019, 24(4):314-316]

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Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster.

Maria Claudia Schelini, Luis Fernando O B Chaves, Marcia C Toledo, Francisco W Rodrigues, Tauan de Oliveira, David L C Isaac, Marcos Avila,

Purpose:Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes are affected, and the prevalence of the disease differs across the world. The ... Read more >>

J Ophthalmol (Journal of ophthalmology)
[2019, 2019:4818162]

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Simultaneous squamous cell carcinoma and malignant melanoma of the conjunctiva in a teenager with xeroderma pigmentosum: Case report.

Ever Rodriguez Caso, Allexya Aa Marcos, Melina Morales, Rubens N Belfort,

Xeroderma pigmentosum (XP) is an autosomal recessive disease with ophthalmic, dermatologic, and neurologic manifestations. Ophthalmological changes are described in up to 100% of XP patients. We report a young XP patient that presented with bilateral conjunctival masses. She was treated by surgical excision with supplemental cryotherapy. The histopathological analysis revealed ... Read more >>

Indian J Ophthalmol (Indian journal of ophthalmology)
[2019, 67(7):1190-1192]

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Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.

Xiaokai Fang, Yonghu Sun,

Background:Xeroderma pigmentosum (XP) is a rare autosomal, recessive, inherited disease. XP patients exhibit high sensitivity to sunlight and increased incidence of skin cancer. The different XP subtypes, which are caused by mutations of eight distinct genes, show some specific clinical manifestations. XP variant (XPV) is caused by mutations in the ... Read more >>

Front Genet (Frontiers in Genetics)
[2019, 10:495]

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Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Rosella Abeti, Anna Zeitlberger, Colm Peelo, Hiva Fassihi, Robert P E Sarkany, Alan R Lehmann, Paola Giunti,

Xeroderma pigmentosum (XP) encompasses a group of rare diseases characterized in most cases by malfunction of nucleotide excision repair (NER), which results in an increased sensitivity to UV radiation in affected individuals. Approximately 25-30% of XP patients present with neurological symptoms, such as sensorineural deafness, mental deterioration and ataxia. Although ... Read more >>

Br. J. Pharmacol. (British journal of pharmacology)
[2019, 176(22):4293-4301]

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Autopsy findings and clinical features of a mild-type xeroderma pigmentosum complementation group A siblings: 40 years of follow-up.

Taro Masaki, Mariko Tsujimoto, Riko Kitazawa, Eiji Nakano, Yoko Funasaka, Masamitsu Ichihashi, Sohei Kitazawa, Akiyoshi Kakita, Fumio Kanda, Chikako Nishigori,

JAAD Case Rep (JAAD case reports)
[2019, 5(3):205-208]

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Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Asma Chikhaoui, Sahar Elouej, Imen Nabouli, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Yosr Hamdi, Mohamed Zghal, Valerie Delague, Nicolas Levy, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef,

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an example of accelerated photo-aging. ... Read more >>

Front Genet (Frontiers in genetics)
[2019, 10:111]

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Heterogeneity and overlaps in nucleotide excision repair disorders.

Debora Ferri, Donata Orioli, Elena Botta,

Nucleotide excision repair (NER) is an essential DNA repair pathway devoted to the removal of bulky lesions such as photoproducts induced by the ultraviolet (UV) component of solar radiation. Deficiencies in NER typically result in a group of heterogeneous distinct disorders ranging from the mild UV sensitive syndrome to the ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, :]

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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Jennifer Pugh, Sikandar G Khan, Deborah Tamura, Alisa M Goldstein, Maria Teresa Landi, John J DiGiovanna, Kenneth H Kraemer,

Importance:Wide use of genomic sequencing to diagnose disease has raised concern about the extent of genotype-phenotype correlations. Objective:To correlate disease-associated allele frequencies with expected and reported prevalence of clinical disease. Design, Setting, and Participants:Xeroderma pigmentosum (XP), a recessive, cancer-prone, neurocutaneous disorder, was used as a model for this study. From ... Read more >>

JAMA Dermatol (JAMA dermatology)
[2019, 155(1):72-78]

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Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation.

Rubens Paulo A Salomão, José Luiz Pedroso, Orlando G P Barsottini,

Pract Neurol (Practical neurology)
[2018, 18(6):489-491]

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DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria.

Luis Bermúdez-Guzmán, Alejandro Leal,

Mutations in DNA repair enzymes can cause two neurological clinical manifestations: a developmental impairment and a degenerative disease. Polynucleotide kinase 3'-phosphatase (PNKP) is an enzyme that is actively involved in DNA repair in both single and double strand break repair systems. Mutations in this protein or others in the same ... Read more >>

Transl Neurodegener (Translational neurodegeneration)
[2019, 8:14]

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Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age.

Marina Guinda Ribeiro, Gabriella Lucato Zunta, Jéssica Silva Santos, Aparecida Machado Moraes, Carmen Silvia Passos Lima, Manoela Marques Ortega,

Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present ... Read more >>

Appl Clin Genet (The application of clinical genetics)
[2018, 11:89-92]

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The Potential Uses of N-acetylcysteine in Dermatology: A Review.

Monica Janeczek, Lauren Moy, Alexandria Riopelle, Olivia Vetter, Jeave Reserva, Rebecca Tung, James Swan,

Background: In recent studies, N-acetylcysteine has been shown to be efficacious in several dermatologic conditions. Objective: The aim was to review clinical trials that assess the efficacy of N-acetylcysteine in cutaneous disorders. Design: The PubMed database was searched and a manual search of clinical trials in the references was performed. ... Read more >>

J Clin Aesthet Dermatol (The Journal of clinical and aesthetic dermatology)
[2019, 12(5):20-26]

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Psychological correlates of adherence to photoprotection in a rare disease: International survey of people with Xeroderma Pigmentosum.

Jessica Walburn, Martha Canfield, Sam Norton, Kirby Sainsbury, Vera Araújo-Soares, Lesley Foster, Mark Berneburg, Alain Sarasin, Natalie Morrison-Bowen, Falko F Sniehotta, Robert Sarkany, John Weinman,

OBJECTIVES:Xeroderma pigmentosum (XP) is an extremely rare genetic disorder (approximately 100 known cases in the United Kingdom), where DNA damage caused by ultraviolet radiation in daylight cannot be repaired. Adherence to photoprotection is essential to prevent skin cancer. We investigated psychological correlates of photoprotection in the XP population of Western ... Read more >>

Br J Health Psychol (British journal of health psychology)
[2019, 24(3):668-686]

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Interplay between BRCA1 and GADD45A and Its Potential for Nucleotide Excision Repair in Breast Cancer Pathogenesis.

Sylwia Pietrasik, Gabriela Zajac, Jan Morawiec, Miroslaw Soszynski, Michal Fila, Janusz Blasiak,

A fraction of breast cancer cases are associated with mutations in the BRCA1 (BRCA1 DNA repair associated, breast cancer type 1 susceptibility protein) gene, whose mutated product may disrupt the repair of DNA double-strand breaks as BRCA1 is directly involved in the homologous recombination repair of such DNA damage. However, ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Niraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J Yousefzadeh, Erin A Wade, Laura J Niedernhofer, May Christine V Malicdan, Kenneth H Kraemer, William A Gahl, Camilo Toro,

To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting.We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F.Both patients presented with adult-onset progressive neurologic deterioration ... Read more >>

Neurol Genet (Neurology. Genetics)
[2018, 4(3):e240]

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Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Zineb Kindil, Mohamed Amine Senhaji, Amina Bakhchane, Hicham Charoute, Soumia Chihab, Sellama Nadifi, Abdelhamid Barakat,

Xeroderma pigmentosum (XP) is a genetically and clinically heterogeneous disease, associated with an inherited defect in one of eight different genes (XPA to XPG and XPV). In addition to the early onset of the skin manifestations, the XP group A is marked by the presence of a mild to severe ... Read more >>

BMC Res Notes (BMC research notes)
[2017, 10(1):704]

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The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D Schmahmann, Mario Manto, Guy A Rouleau, Christopher Klein, Nicolas Dupre,

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a ... Read more >>

Cerebellum (Cerebellum (London, England))
[2019, 18(6):1098-1125]

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Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

Hector Garcia-Moreno, Hiva Fassihi, Robert P E Sarkany, Julie Phukan, Thomas Warner, Alan R Lehmann, Paola Giunti,

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2018, 5(1):102-108]

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Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study.

Anna M Gruener, Ana M S Morley,

The purpose of this study was to evaluate retinal thickness in different Xeroderma Pigmentosum (XP) complementation groups using spectral-domain optical coherence tomography (SD-OCT). This was a cross-sectional pilot study of 40 patients with XP. All patients had healthy-looking retinae and optic nerves on slit lamp biomicroscopy, and subtle or no ... Read more >>

Neuroophthalmology (Neuro-ophthalmology (Aeolus Press))
[2018, 42(6):356-366]

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Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan.

Takehiro Ueda, Fumio Kanda, Masahiro Nishiyama, Chikako Nishigori, Tatsushi Toda,

Xeroderma pigmentosum (XP) is an inherited congenital disease presenting with dermatological and neurological manifestations. In Japan, XP complementation group A (XP-A) is most frequently observed in eight clinical subtypes, and the homozygous founder mutation, IVS3-1G>C in XPA, suffer from severe manifestations including progressive brain atrophy since childhood. In this study, ... Read more >>

J. Neurol. Sci. (Journal of the neurological sciences)
[2017, 381:103-106]

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Actual state of knowledge in the field of diseases related with defective nucleotide excision repair.

Barbara Bukowska, Bolesław T Karwowski,

Xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) are rare genetic diseases characterized by a large range of clinical symptoms. However, they are all associated with defects in nucleotide excision repair (NER), the system responsible for removing bulky DNA lesions such as those generated by UV light: cyclobutane pyrimidine ... Read more >>

Life Sci. (Life sciences)
[2018, 195:6-18]

Cited: 3 times

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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.

Mariem Ben Rekaya, Chokri Naouali, Olfa Messaoud, Meriem Jones, Yosra Bouyacoub, Majdi Nagara, Tommaso Pippucci, Haifa Jmel, Mariem Chargui, Manel Jerbi, Mohamed Alibi, Hamza Dallali, Anu Bashamboo, Kenneth McElreavey, Giovanni Romeo, Abdelhamid Barakat, Mohamed Zghal, Houda Yacoub-Youssef, Sonia Abdelhak,

Skin cancers (SC) are complex diseases that develop from complex combinations of genetic and environmental risk factors. One of the most severe and rare genetic diseases predisposing to SC is the Xeroderma pigmentosum (XP) syndrome.First, to identify the genetic etiology of XP and to better classify affected patients. Second, to ... Read more >>

J. Dermatol. Sci. (Journal of dermatological science)
[2018, 89(2):172-180]

Cited: 3 times

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