Relation between Voice Handicap Index [VHI] and disease severity in Iranian patients with Parkinson's disease

One third of patients with Parkinson's disease [PD] have mentioned "dysphonia" as their most debilitating communication deficit. Patient-based measurements, such as Voice Handicap Index [VHI] add necessary supplementary information to clinical and physiological assessment. There are a few studies about relation between VHI and disease severity in PD, although none of them showed any significant correlation. The goal of this study was to find correlation between these variables in Iranian PD patients. This cross-sectional, analytical and non-interventional study was done on 23 PD patients who reported a voice disorder related to their disease. They were selected from attendants of movement disorders clinic of Hazrat Rasool Akram Hospital. The relationship between disease severity [according to Hoehn and Yahr/H and Y and Unified Parkinson's Disease Rating Scale-part3 /UPDRS-III] and VHI questionnaire [and its 3 domains] was investigated based on patients' sex, UPDRS-III score H and Y and VHI. Total VHI and its 3 domains had no relationship with disease severity [H and Y] in all patients and by sex separation. However, there was a positive correlation between VHI and disease severity [UPDRS-III] [r=0.485]. There was also a relation between physical and functional domains of VHI and UPDRS [r[P]=0.530, r[F]=0.479] while no relationship observed regarding sex differences. 9 out of 18 UPDRS-III items had strong relationship with VHI [total and 3subscales]. Iranian PD patients feel handicap according to voice disorder caused by PD. Patient satisfaction of voice decreases with the disease severity and progression. A larger sample size is necessary to find relationship in genders. VHI is an important issue could be offered to be used in PD beside other assessments

Chorea-acanthocytosis: report of three cases from Iran

Chorea-acanthocythosis [ChAc] is an inherited neurodegenerative disorder characterized by movment disorders, neuropsychiatric disturbances, neuropathy, myopathy, seizures and acanthocytosis accompanied by an elevated serum creatine kinase [CK] level. Its causative gene [VPS13A] produces chorein which is absent in ChAc patients as evaluated by Western blot assay. We report the first three Iranian patients whose disease has been confirmed by chorein Western blot. Our cases presented with heterogeneous courses of ChAc. A high sense of clinical awareness in approaching patients with deteriorating and/or multiple abnormal movements that are accompanied by other sense of clinical awareness in approaching patients with deteriorating and/or multiple abnormal movements that are accompanied by other neurological signs such as neuropathy, myopathy, seizures and high serum CK level will support an early diagnosis of this disease. We also emphasize on the presence of axial flexion/ extension spasms as a good clinical sign for narrowing differential diagnosis

Clinical features, DYT1 mutation screening and genotype-phenotype correlation in patients with dystonia from Iran

To test Iranian patients with primary torsion dystonia to determine the frequency of 904-906 del GAG mutation in the DYT1 [TOR1A] gene and to investigate the genotype-phenotype association for this disease. Subjects and Methods: Sixty-three patients with primary dystonia were investigated. DMA was extracted from peripheral blood and these samples were subjected to PCR-sequencing for exon 5 of the DYT1 gene. Results: Of the 63 patients, 10 [15.9%] carried the triplet GAG deletion mutation; this is a high DYT1-positive rate in comparison with other populations and the type of dystonia in this positive group was generalized in all except 1. In our patients, limbs were the most severely involved site at the time of onset and in most cases it developed to generalized form. The majority of DYT1-positive cases showed higher leg onset [5 patients, 62.5%] in comparison with higher arm onset in negative patients [20 patients, 50%]. Also, the progression to generalized dystonia in DYT1-positive patients was significantly higher than in DYT1-negative patients. The mean age at onset was 8.6 +/- 1.6 years [7-12 years] in D/H-positive patients, while mean age at onset in patients with no GAG deletion mutation was higher [15.7 +/- 11.5 years]. The DYT1 904-906 del GAG mutation is responsible for some of Iranian dystonia patients, and screening for the DYT1 deletion is significant in cases with the generalized type of primary dystonia. Also, patients with leg or arm onset at a younger age are more likely to be DYT1-positive among primary torsion dystonia Cases

frequency of DYT1 [GAG deletion] mutation in primary dystonia patients from Iran

To determine the frequency of DYT1 mutation in Iranian patients affected with primary dystonia. in this study, we investigated 60 patients with primary dystonia who referred to the Tehran Medical Genetics Laboratory [TMGL] to determine the deletional mutation of 904-906 del GAG in the DYT1 gene, DNA extracted from patients' peripheral blood was subjected to PCR-sequencing for exon 5 of the DYT1 gene. The collection of samples was based on random sampling. The deletional mutation of 904-906 del GAG in the DYT1 gene [15099 to 15101 based on reference sequence: NGJ308049.1] was identified in 11 patients [18.33%]. The average age of affected patients with this mutation was 13.64 +/- 7.4 years. Conclusion: It can be concluded that the DYT1 deletional mutation of 904-906 del GAG has a high frequency in Iranian patients in comparison with other non-Jewish populations. Therefore, this particular mutation may be the main representative of pathogenic DYT1 gene for a large proportion of Iranian patients with primary dystonia