NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY

Ardiansyah, Rivaldi (2010) NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY. Undergraduate thesis, Faculty of Medicine.

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Abstract

Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder. Therefore this study is addressed to provide the data about neurological involvement of late-adult premutation carriers of FXS. Objectives: This research is to know neurological involvement of late-adult premutation carriers of FXS. Subjects and Methods: This was a descriptive study following cytogenetic, Polymerase Chain Reaction (PCR), and neurological examinations on premutation carriers of FXS. Cytogenetic and PCR results were secondary data from Central for biomedical research (CEBIOR) laboratory of Faculty of Medicine Diponegoro University during September 2009 – March 2010. Simple neurological examination techniques were done to observe neurological involment among male premutation carriers. Results: There were four males carrying premutation allele over the age of 50. Cytogenetic analysis revealed two subjects expressed fragile site. The other two subjects expressed no fragile site. PCR analysis revealed expanded allele from all subjects. Subject III.6 showed intention tremor and gait ataxia, which are two mayor clinical criterions of FXTAS. Subject III.8 showed gait ataxia which is a mayor criterion of FXTAS. Subject III.9 showed intention tremor and gait ataxia, which are two mayor criterions of FXTAS. And Subject III.10 showed gait ataxia which is a mayor criterion of FXTAS. Conclusion: Some cerebellar manifestations such as intention tremor, limb ataxia, gait ataxia, dysdiadochokinesia, and titubation have been identified in premutation carriers of FXS. Southern Blot is needed to reveal subjects’s molecular status more accurate. Simple techniques to observe mayor and minor clinical criteria in this study had been proved can be used in the future. Radiological imaging is needed to address major and minor radiological criteria of FXTAS is still needed as one of an objectives measurement. Keywords : Fragile X-associated Tremor Ataxia Syndrome, intention tremor, gait ataxia, cerebellar manifestations

Item Type:Thesis (Undergraduate)
Subjects:R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Divisions:Faculty of Medicine > Department of Medicine
Faculty of Medicine > Department of Medicine
ID Code:23706
Deposited By:Ms Lutfiatun Heni
Deposited On:04 Nov 2010 09:34
Last Modified:04 Nov 2010 09:34

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