1. Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases

Mohammad Vafaee-Shahi; Saeideh Ghasemi; Masood Ghahvechi-Akbar; Leila Tahernia; Atefeh Davarzani; Reza Hajati; Davood Zare-Abdollahi; Afagh Alavi

Volume 19, Issue 4 , Autumn 2020, , Pages 200-210

http://dx.doi.org/10.18502/cjn.v19i4.5548

Abstract
  Background: Giant axonal neuropathy (GAN) is a very rare fatal neurodegenerative disorder with clinical and allelic heterogeneity. The disease is caused by mutations in the GAN (gigaxonin) gene. Herein, we reported the clinical presentations and results of genetic analysis of the first Iranian GAN case. ...  Read More

2. 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

Marzieh Khani; Afagh Alavi; Shahriar Nafissi; Elahe Elahi

Volume 14, Issue 3 , Summer 2015, , Pages 152-157

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. ...  Read More

3. Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings.

Mitra Ansari Dezfouli; Elham Jaberi; Afagh Alavi; Mohammad Rezvani; Gholamali Shahidi; Elahe Elahi; Mohammad Rohani

Volume 11, Issue 4 , Autumn 2012, , Pages 155-158

Abstract
  Background: Pantothenate kinase associated neurodegeneration (PKAN) is the most prevalent type of neurodegeneration with brain iron accumulation (NBIA) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on T2 brain magnetic resonance imaging (MRI) characterized by hypointensity in ...  Read More