<abstract xmlns="http://www.w3.org/1999/xhtml"> Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy.Objectives: To investigate evidence-based diagnosis of hereditary ataxia by retrospective analysis of the diagnostic process in one Chinese family.Methods: Clinical records of 15 ataxia patients from one Chinese family with 46 family members were retrospectively reviewed and a tentative diagnosis was made based on clinical manifestations, signs and symptoms, mode of inheritance, and progression. Since hereditary ataxia is a group of heterogeneous diseases having various subtypes and overlapping symptoms, we adopted a stepwise evaluation to achieve a tentative diagnosis. To confirm the diagnosis, we performed polymerase chain reaction (PCR) specific for the suspected causative gene of spinocerebellar ataxia (SCA) subtype 3 (SCA3).Results: Through analysis of hereditary and clinical characteristics of family histories of the patients, we suspected that the family might suffer from SCA, especially, SCA3. The PCR assay for SCA3 showed that, five of the ten samples analyzed had a CAG trinucleotide expansion of the SCA3 gene, and four of the five members developed ataxia. The remaining one, a seven-year-old girl, showed no symptoms or signs except for uvula deviation. No clinical symptoms were found in five other members with negative PCR results. Thus, based on both clinical findings and laboratory results, we further confirmed that the family suffered from SCA3.Conclusion: Hereditary ataxias are disorders sharing overlapping symptoms. Comprehensive analysis of medical and family records together with genetic diagnosis improves diagnostic efficiency of hereditary ataxia and aides in family counseling.</abstract>

Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy.Objectives: To investigate evidence-based diagnosis of hereditary ataxia by retrospective analysis of the diagnostic process in one Chinese family.Methods: Clinical records of 15 ataxia patients from one Chinese family with 46 family members were retrospectively reviewed and a tentative diagnosis was made based on clinical manifestations, signs and symptoms, mode of inheritance, and progression. Since hereditary ataxia is a group of heterogeneous diseases having various subtypes and overlapping symptoms, we adopted a stepwise evaluation to achieve a tentative diagnosis. To confirm the diagnosis, we performed polymerase chain reaction (PCR) specific for the suspected causative gene of spinocerebellar ataxia (SCA) subtype 3 (SCA3).Results: Through analysis of hereditary and clinical characteristics of family histories of the patients, we suspected that the family might suffer from SCA, especially, SCA3. The PCR assay for SCA3 showed that, five of the ten samples analyzed had a CAG trinucleotide expansion of the SCA3 gene, and four of the five members developed ataxia. The remaining one, a seven-year-old girl, showed no symptoms or signs except for uvula deviation. No clinical symptoms were found in five other members with negative PCR results. Thus, based on both clinical findings and laboratory results, we further confirmed that the family suffered from SCA3.Conclusion: Hereditary ataxias are disorders sharing overlapping symptoms. Comprehensive analysis of medical and family records together with genetic diagnosis improves diagnostic efficiency of hereditary ataxia and aides in family counseling.

Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

PhD, Department of Pediatrics, The First Hospital of Jilin University, 71 Xinmin Street, Changchun 730021, Jilin Province,

Department of Pediatrics, the University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104,

Department of Pediatrics, the First Hospital of Jilin University, Changchun, Jilin, 730021,

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated...

Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

Article Category: Original article

Pubblicato online: 04 feb 2017

Pagine: 57 - 62

DOI: https://doi.org/10.5372/1905-7415.0501.006

Parole chiave
Cerebellar ataxia, diagnosis, heredity, PCR

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

Article Category: Original article

Pubblicato online: 04 feb 2017

Pagine: 57 - 62

DOI: https://doi.org/10.5372/1905-7415.0501.006

Parole chiaveCerebellar ataxia, diagnosis, heredity, PCR

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Parole chiave
Cerebellar ataxia, diagnosis, heredity, PCR