Background Disorders related to dysfunction of coenzyme (CoQ10) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ10 supplementation. Methods We describe two new cases of neurological syndromes due to ADCK3 ...
Journal of Neurology Neurosurgery & PsychiatryP.O. Horvath, B. Czermin, S. Gulati, A. Pyle, A. Hassani, C. Foley, R.W. Taylor, P.F. Chinnery, Adult-onset cerebellar ataxia due to mutations in the Cabc1/Adck3 gene, J. Neurol. Neurosurg. Psychiatry 83 (2012)....
ADCK3 geneDeletionAutosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics laboratories. Here, we ...
Primary Coenzyme Q10 deficiency-4 (COQ10D4), also known as autosomal recessive spinocerebellar ataxia-9 (SCAR9), is an autosomal recessive disorder caused by mutations in theADCK3gene. This disorder is characterized by several clinical manifestations such as severe infantile multisystemic illness, ...
This case report aimed to present the results of the physiotherapy and rehabilitation program of a 19-year-old patient with cerebellar ataxia and myoclonus, due to coenzyme Q10 deficiency, associated with the ADCK3 gene mutation. International cooperative ataxia rating scale, mini...
One of these ataxias, known as Autosomal Recessive Cerebellar Ataxia Type-2 (ARCA-2, also known as SCAR9/COQ10D4; OMIM: #612016), arises due to mutations in the ADCK3 gene. The product of this gene (ADCK3) is an atypical kinase that is thought to play a regulatory role in ...
ADCK3/CABC1 is included in this region (OMIN#12016), a gene in which mutations are associated with autosomal recessive spinocerebellar ataxia. Molecular cytogenetic (FISH test) studies also revealed the tandem duplication.Conclusions: This is the first report of a duplication mutation on ADCK3/CAB...
O17 – 1786 Exome sequencing reveals heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy but extreme phenotypic variabilityProximal duplications of the long arm of chromosome 16 are rare and only a few patients have been reported. Clinically, the patients do not have a ...