The G209A mutation in the alpha-synuclein gene is not detected in familial cases of Parkinson disease in non-Greek and/or Italian populations.

نویسندگان

  • W W Wang
  • M Khajavi
  • B J Patel
  • J Beach
  • J Jankovic
  • T Ashizawa
چکیده

OBJECTIVE To determine whether the G-to-A substitution at nucleotide 209 (G209A) mutation in the alpha-synuclein gene is responsible for familial Parkinson disease (PD) in the US population. DESIGN Polymerase chain reaction-based DNA analysis of consecutive patients with PD and family history of PD. SETTING A university-affiliated movement disorder clinic and a Veterans Affairs clinical research laboratory. PATIENTS Forty-four patients with PD and family history of PD and 29 patients with sporadic PD, all with no known Greek and/or Italian background. RESULTS None of the DNA samples showed the G209A mutation. CONCLUSION The G209A mutation is rare in US patients with familial PD.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom.

Parkinson's disease is a common neurodegenerative disorder of unknown aetiology. A pathogenic point mutation within the a-synuclein gene has recently been identified in one Italian-American kindred and three families of Greek origin with parkinsonism. DNA from 70 patients with Parkinson's disease was screened for this G209A mutation. No samples were positive for the mutation, suggesting that it...

متن کامل

SPET striatal uptake in parkinsonian patients with the ·-synuclein (G209A) mutation

Autosomal dominant familial Parkinson’s disease (PD) due to the ·-synuclein (G209A) mutation shares similar clinical characteristics with sporadic PD. Pathological studies however indicate more widespread neuronal degeneration in the familial form. We performed 123I-FP-CIT SPET (DaTSCAN) study in nine patients with familial PD carrying the ·-synuclein (G209A) mutation and fifteen matched patien...

متن کامل

Clioquinol-induced ordered conformational behavior in alpha-synuclein: promising relevance for therapeutic approach to Parkinson's disease

Parkinson?¦s disease (PD) is a devastating and an intricate complex neurological disorder that results from the progressive degeneration of nerve cells in Substantia nigra that controls movement. The pathological hallmark of PD is the formation of insoluble protein aggregates known as lewey bodies. Alpha-synuclein is the major constituent of these fibrillar structures. Alpha-synuclein a 140 ami...

متن کامل

فراوانی جهش‌های M34T،167delT ، 235delC و 35delG در ژن GJB2 در ناشنوایی حسی- عصبی غیر سندرمی با وراثت جسمی مغلوب در جمعیت استان آذربایجان غربی

Background and Objective: Mutations in GJB2 gene is the most common cause of autosomal recessive non-syndromic hearing loss in many populations. The aim of this study was to determine the frequency of 35delG, 167delT, M34T, 235delC mutations in West Azarbaijan population. Materials and Methods: 129 patients from 96 families were studied. Mutations were detected using ASO-PCR and PCR-RFLP method...

متن کامل

Clioquinol-induced ordered conformational behavior in alpha-synuclein: promising relevance for therapeutic approach to Parkinson's disease

Parkinson?¦s disease (PD) is a devastating and an intricate complex neurological disorder that results from the progressive degeneration of nerve cells in Substantia nigra that controls movement. The pathological hallmark of PD is the formation of insoluble protein aggregates known as lewey bodies. Alpha-synuclein is the major constituent of these fibrillar structures. Alpha-synuclein a 140 ami...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Archives of neurology

دوره 55 12  شماره 

صفحات  -

تاریخ انتشار 1998