الفهرس 
HEREDITARY ATAXIASOnly 14 pages are availabe for public view
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Abstract
H
ereditary ataxias are a clinically and genetically heterogeneous group of disorders characterized by progressive in coordination of gait and associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.
The hereditary ataxias are classified by mode of inheritance and gene in which causative mutations occur, or chromosomal locus. The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, X-linked manner or through maternal inheritance if part of a mitochondrial genetic syndrome.
We can know mode of inheritance through detailed family history, family pedigree, genetic test, neurological examinations and neuroimaging.
We must think first in treatable causes of ataxia in any ataxiac patient such as AVED and acquired causes of ataxia.
For proper management of hereditary ataxias, we must follow a systematic approach that include medical history, detailed family history (family pedigree), neurological examination, neuroimaging, molecular genetic testing and proper functional assessment.
Our study was cross sectional case control and was composed of patients, (their age range from 15years old to 40years old) were attended in out patients clinic or were admitted in our neurology department at Ain Shams University Hospitals and controls (their age range from 15 years old to 35years old). Both groups were matched regarding age, sex an residency. The study was conducted from February 2018 to September 2018.
Each person in the study was subjected to the following:
Detailed history including personal data, family history in details, past history and history of present illness.
Clinical assessment including general examination(other systems involvement and skeletal deformity) and full neurological examination especially cerebellar, sensory and motor examinations.
Family pedigree to know mode of inheritance especially in cases with positive family history.
Functional assessment using SARA score which subdivided into 8 items with 40 points. We correlated between SARA score and duration of disease to assess patients functionally.
Psychological assessment using MMSE which is composed of 30 points.
Laboratory vitamin E and alpha fetoprotein assessment to compare between cases and controls.
Neurophysiological studies such as nerve conduction.
MRI brain
Results of this study revealed that:
There was significant correlation between SARA score and duration of disease. There was linear relationship between SARA score and duration of disease.
In alpha feto protein assessment, we found that 4 patients have an elevated alpha fetoprotein out of 23 patients in comparison to controls with P value0.017.
Regarding, correlation between patients and controls in vitamin E, it was significant with p value 0.017. In ROC curve, cut off point is 89 with sensitivity 56.52% and specificity 100% with PPV 100%.
There was positive correlation between positive family history and consanguinity in cases.
Regarding, MRI brain and neurophysiological studies (Nerve conduction study), we found that all patient have cerebellar atrophy in MRI brain and axonal neuropathy in neurophysiology studies. There was no significant correlation regarding age, gender and residency along the 23 cases.