OBSERVATION OF C.260A > G MUTATION IN SUPEROXIDE DISMUTASE 1 THAT CAUSES P.ASN86SER IN IRANIAN AMYOTROPHIC LATERAL SCLEROSIS PATIENT AND ABSENCE OF GENOTYPE/PHENOTYPE CORRELATION

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

KHANI MARZIEH; ALAVI AFAGH; NAFISSI SHAHRIAR; ELAHI ELAHE

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Current Journal of Neurology Year:2015 | Volume:14 | Issue:3 Page(s): 152-157

Download Full-Text

View:

332

Download:

107

Cites:

Information Journal Paper

Title

OBSERVATION OF C.260A > G MUTATION IN SUPEROXIDE DISMUTASE 1 THAT CAUSES P.ASN86SER IN IRANIAN AMYOTROPHIC LATERAL SCLEROSIS PATIENT AND ABSENCE OF GENOTYPE/PHENOTYPE CORRELATION

Author(s)

KHANI MARZIEH | ALAVI AFAGH | NAFISSI SHAHRIAR | ELAHI ELAHE | Issue Writer Certificate

Keywords

AMYOTROPHIC LATERAL SCLEROSIS

GENOTYPE-PHENOTYPE CORRELATION

MUTATION

P.ASN86SER

SUPEROXIDE DISMUTASE 1

Abstract

Background: AMYOTROPHIC LATERAL SCLEROSIS (ALS) is the most common motor neuron disorder in European populations. ALS can be sporadic ALS (SALS) or familial ALS (FALS). Among 20 known ALS genes, MUTATIONs in C9orf72 and SUPEROXIDE DISMUTASE 1 (SOD1) are the most common genetic causes of the disease. Whereas C9orf72 MUTATIONs are more common in Western populations, the contribution of SOD1 to ALS in Iran is more than C9orf72. At present, a clear genotype/phenotype correlation for ALS has not been identified. We aimed to perform MUTATION screening of SOD1 in a newly identified Iranian FALS patient and to assess whether a genotype/phenotype correlation for the identified MUTATION exists.Methods: The five exons of SOD1 and flanking intronic sequences of a FALS proband were screened for MUTATIONs by direct sequencing. The clinical features of the proband were assessed by a neuromuscular specialist (SN). The phenotypic presentations were compared to previously reported patients with the same MUTATION.Results: Heterozygous c.260A > G MUTATION in SOD1 that causes Asn86Ser was identified in the proband. Age at onset was 34 years and site of the first presentation was in the lower extremities. Comparisons of clinical features of different ALS patients with the same MUTATION evidenced variable presentations.Conclusion: The c.260A > G MUTATION in SOD1 that causes Asn86Ser appears to cause ALS with variable clinical presentations.

Cites

No record.

References

No record.

Cite

APA: Copy

KHANI, MARZIEH, ALAVI, AFAGH, NAFISSI, SHAHRIAR, & ELAHI, ELAHE. (2015). OBSERVATION OF C.260A > G MUTATION IN SUPEROXIDE DISMUTASE 1 THAT CAUSES P.ASN86SER IN IRANIAN AMYOTROPHIC LATERAL SCLEROSIS PATIENT AND ABSENCE OF GENOTYPE/PHENOTYPE CORRELATION. CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY), 14(3), 152-157. SID. https://sid.ir/paper/665707/en

Vancouver: Copy

KHANI MARZIEH, ALAVI AFAGH, NAFISSI SHAHRIAR, ELAHI ELAHE. OBSERVATION OF C.260A > G MUTATION IN SUPEROXIDE DISMUTASE 1 THAT CAUSES P.ASN86SER IN IRANIAN AMYOTROPHIC LATERAL SCLEROSIS PATIENT AND ABSENCE OF GENOTYPE/PHENOTYPE CORRELATION. CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY)[Internet]. 2015;14(3):152-157. Available from: https://sid.ir/paper/665707/en

IEEE: Copy

MARZIEH KHANI, AFAGH ALAVI, SHAHRIAR NAFISSI, and ELAHE ELAHI, “OBSERVATION OF C.260A > G MUTATION IN SUPEROXIDE DISMUTASE 1 THAT CAUSES P.ASN86SER IN IRANIAN AMYOTROPHIC LATERAL SCLEROSIS PATIENT AND ABSENCE OF GENOTYPE/PHENOTYPE CORRELATION,” CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY), vol. 14, no. 3, pp. 152–157, 2015, [Online]. Available: https://sid.ir/paper/665707/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops