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Volume 10
Journal of Neurology & Neurophysiology
ISSN: 2155-9562
Neurology Congress 2019
Vascular Dementia Congress 2019
July 22-24, 2019
JOINT EVENT
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July 22-24, 2019 London, UK
&
12
th
International Conference on
Vascular Dementia
32
nd
European Neurology Congress
Two homozygous
KIF1C
mutations in aTurkish family with cerebellar dysfunction and spastic paraparesis
Güllü Tarhan
1
, Sahinde Fazilet Hiz
1
, Busra Elif Inanir
1
, Ayse Nazli Basak
2
, Gulsah Simsir
2
and
Sabahat Nacar Dogan
3
1
Gaziosmanpasa Taksim Training and Research Hospital, Turkey
2
Gaziosmanpasa Taksim Training and Research Hospital, Turkey
3
Koc University School Of Medicine Molecular Biology and Genetics- Kuttam Suna and Inan Kirac Foundation Neurodegeneration
Research Laboratory, Turkey
K
IF1C
mutation is genetic defect which is observed with hereditary spastic paraparesis and cerebellar dysfuntion.
In this report, we analyzed the Turkish family who had spastic paraparesis and cerebellar dysfunction with KIFC
mutation. There were paraparesis, ataxia, dysarthria, tremor in brothers whom parents were second degree relatives
and asymptomatic. Father and mother's ages were 65 and 62 and brothers were 44, 42, 36. Their complaints appeared
with tremor in their hands in childhood. In the following terms, the other complaints began to reveal. There were
no point in family history. Patients' neurologic examination: their speech were dysarthric, biletaral dysmetria and
dysdiadokokinezi in all. Intention tremor could be seen in all brothers' heads and extremities. The patient's, who
were 44 years old, spastic paraparesis is more serious than the other two and he were walking by using one crutch.
The other two brothers', who are 42 and 36 years old, spastic paraparesis were less serious and they could walk
without using any crutch. General medical tests such as routine biochemistries, hemograms, hormones, B12, VDRL,
HIV, vitamin A and E, thyroid hormones, plasma ceruloplasmin and copper were normal. In Cranial-Spinal MR,
there were remarkable cortical and cerebellar atrophie. Electrocardiographies, electromyographies and odiographies
were normal. They had adequate IQ scores, which were among 80-100 scores. In whole exome sequencing two
variant mutation were identified in their
KIF1C
genes. The parents are heterozygote and brothers are homozygote.
On the basis of clinical and genetical analyzies, autosomal recessive spastic paraparesis and ataxia were considered
due to mutation in
KIF1C
.
Biography
Güllü Tarhan is a 26 year old and working as a Neurology resident in the Gaziosmanpasa Taksim Training and Research Hospital. She has completed Istanbul
Faculty of Medicine two years ago.
gllutrhan@gmail.comkGüllü Tarhan et al., J Neurol Neurophysiol 2019, Volume 10