Kayihan Uluc | Marmara University (original) (raw)

Papers by Kayihan Uluc

Amyotrophic Lateral Sclerosis, 2009

We present a 19-year-old female patient complaining of hoarseness and eyelid drooping. The neurol... more We present a 19-year-old female patient complaining of hoarseness and eyelid drooping. The neurological examination and laboratory investigations including genetic, radiological and electrophysiological evaluations were consistent with a juvenileonset, predominantly bulbar, motor neuron disease with sensorineural hearing loss. The syndrome fulfilled the diagnostic criteria of Madras Motor Neuron Disease (MMND). Very few cases with MMND have been reported to date, and the majority are from south-eastern Asia. This is the first case reported from Turkey and indicates that the disease is not only regional but may also occur on the basis of rare de novo mutations.

International Journal of Neuroscience, 2011

An association between small fiber neuropathy and primary Restless Legs Syndrome (RLS) is suggest... more An association between small fiber neuropathy and primary Restless Legs Syndrome (RLS) is suggested since both of them share common characteristics. Our aim was to investigate the existence of autonomic neuropathy on the basis of autonomic tests. The patients and the age-matched controls were evaluated with Neuropathy Symptom Profile and Autonomic Symptom Profile, nerve conduction studies (NCS), and autonomic tests. Patients suffered from neuropathic and autonomic complaints obviously. There was no significant difference for NCS, heart rate variability tests, and sympathetic skin responses (SSRs) among patients and controls. Since both the NCSs and the autonomic tests were within normal, the complaints were considered to be the consequences of the problem in sensory integration due to the dysfunction of the caudal diencephalic A11 group, rather than a neuropathic process. The cardiac autonomic imbalance possibly emerges as a consequence of arousal periods prior to or during the Periodic Leg Movements (PLM) episodes during sleep, but not due to autonomic neuropathy.

International Journal of Neuroscience, 2014

Objective: This study aimed to assess palmar cutaneous branch of the median nerve (PCBm) conducti... more Objective: This study aimed to assess palmar cutaneous branch of the median nerve (PCBm) conduction in patients with clinically diagnosed carpal tunnel syndrome (CTS), to compare PCBm conduction with that of the median and ulnar nerves, and to determine the PCBm conduction abnormality rate in patients with CTS. Materials and Methods: The study included 99 hands of 60 patients with clinical CTS and 38 hands of 38 healthy controls. Sensory nerve conduction study (NCS) was performed on the median nerve, ulnar nerve, and PCBm, and onset latency, conduction velocity and amplitude were recorded. Additionally, differences in latency and velocity between the median nerve and PCBm, and the difference in latency between the median and ulnar nerves were calculated. Results: In all, 56% of the patients with CTS had abnormal PCBm conduction. Additionally, in 7 of 8 hands with abnormal sensation -both in the thenar eminence and abnormal sensory distribution along the main branch -NCS of the PCBm was also abnormal. Conclusions: The PCBm is not ideal as a comparator nerve for the neurophysiological diagnosis of CTS. The frequency of PCBm abnormality in CTS patients may be related to the concomitant damage in both of these nerves. Additionally, the present findings may help explain, at least in part, why patients with CTS often exhibit sensory involvement beyond the classical median nerve sensory borders.

Headache: The Journal of Head and Face Pain, 2014

Journal of Neuro-Oncology, 2000

A 20-year-old male patient admitted with intractable seizures and progressive dementia is present... more A 20-year-old male patient admitted with intractable seizures and progressive dementia is presented. Magnetic resonance imaging (MRI) examinations revealed diffuse leptomeningeal thickening, enhancement especially in the basal cisterns and multiple cystic formations in the brain stem, temporal lobes and basal ganglia. The pathologic examination from the right temporal lobe was consistent with leptomeningeal sarcoma. Marked regression of the symptoms and MRI lesions were detected following radiotherapy.

Clinical Neurophysiology, 2008

Clinical Neurophysiology, 2008

Clinical Neurophysiology, 2008

Objective: Clinical utility of nerve conduction studies (NCS) of the medial plantar and dorsal su... more Objective: Clinical utility of nerve conduction studies (NCS) of the medial plantar and dorsal sural nerves in the early detection of polyneuropathy have already been shown separately. However, at present, there is no data about the combined assessment of these two nerves in distal sensory neuropathy. In the present study, we aimed to evaluate the medial plantar and dorsal sural NCS in a group of diabetic patients with distal sensory neuropathy (DSN) and in healthy controls. Methods: Thirty healthy and 30 diabetic adult patients were included. In all subjects, peripheral motor and sensory NCS were performed bilaterally with surface electrodes on the lower limbs including medial plantar and dorsal sural nerves. In addition, motor and sensory nerves were studied unilaterally on the upper limb. Results: In all patients, nerve action potential (NAP) amplitudes of sural and superficial peroneal nerves were within normal ranges, but in the patient group mean value was significantly lower than in the controls. Among clinically defined 30 DSN patients, medial plantar NAP amplitude was abnormal in 18 (60%) and dorsal sural nerve amplitude was abnormal in 13 (40%) of the patients bilaterally. Additionally, the onset NCV of the dorsal sural nerve was significantly slower in patients than controls (P = 0.038). Evaluation of both of these nerves increased the sensitivity up to 70% in the detection of neuropathy.

Biochemical Journal, 2012

LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is a... more LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction. Magnetic resonance imaging shows characteristic abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. LBSL is caused by mutations in the gene DARS2, which encodes mtAspRS (mitochondrial aspartyl-tRNA synthetase). The selective involvement of specific white matter tracts in LBSL is striking since this protein is ubiquitously expressed. Almost all LBSL patients have one mutation in intron 2 of DARS2, affecting the splicing of the third exon. Using a splicing reporter construct, we find cell-type-specific differences in the sensitivity to these mutations: the mutations have a larger effect on exon 3 exclusion in neural cell lines, especially neuronal cell lines, than in nonneural cell lines. Furthermore, correct inclusion of exon 3 in the normal mtAspRS mRNA occurs less efficiently in neural cells than in other cell types, and this effect is again most pronounced in neuronal cells. The combined result of these two effects may explain the selective vulnerability of specific white matter tracts in LBSL patients.

Pandysautonomia is a severe and rare clinical condition characterized by widespread sympathetic a... more Pandysautonomia is a severe and rare clinical condition characterized by widespread sympathetic and parasympathetic dysfunction. Consideration of whether symptoms and presentation are acute, subacute, or chronic is often helpful in establishing a differential diagnosis. The underlying mechanisms leading to pure pandysautonomia are unclear; however, there is some evidence suggestive of an immune-mediated pathogenesis. Herein, we report a case with pandysautonomia as a paraneoplastic manifestation of non-small cell lung cancer that had an excellent response to symptomatic and supportive treatments, as well as IVIG therapy.

Amyotrophic Lateral Sclerosis, 2009

We present a 19-year-old female patient complaining of hoarseness and eyelid drooping. The neurol... more We present a 19-year-old female patient complaining of hoarseness and eyelid drooping. The neurological examination and laboratory investigations including genetic, radiological and electrophysiological evaluations were consistent with a juvenileonset, predominantly bulbar, motor neuron disease with sensorineural hearing loss. The syndrome fulfilled the diagnostic criteria of Madras Motor Neuron Disease (MMND). Very few cases with MMND have been reported to date, and the majority are from south-eastern Asia. This is the first case reported from Turkey and indicates that the disease is not only regional but may also occur on the basis of rare de novo mutations.

International Journal of Neuroscience, 2011

An association between small fiber neuropathy and primary Restless Legs Syndrome (RLS) is suggest... more An association between small fiber neuropathy and primary Restless Legs Syndrome (RLS) is suggested since both of them share common characteristics. Our aim was to investigate the existence of autonomic neuropathy on the basis of autonomic tests. The patients and the age-matched controls were evaluated with Neuropathy Symptom Profile and Autonomic Symptom Profile, nerve conduction studies (NCS), and autonomic tests. Patients suffered from neuropathic and autonomic complaints obviously. There was no significant difference for NCS, heart rate variability tests, and sympathetic skin responses (SSRs) among patients and controls. Since both the NCSs and the autonomic tests were within normal, the complaints were considered to be the consequences of the problem in sensory integration due to the dysfunction of the caudal diencephalic A11 group, rather than a neuropathic process. The cardiac autonomic imbalance possibly emerges as a consequence of arousal periods prior to or during the Periodic Leg Movements (PLM) episodes during sleep, but not due to autonomic neuropathy.

International Journal of Neuroscience, 2014

Objective: This study aimed to assess palmar cutaneous branch of the median nerve (PCBm) conducti... more Objective: This study aimed to assess palmar cutaneous branch of the median nerve (PCBm) conduction in patients with clinically diagnosed carpal tunnel syndrome (CTS), to compare PCBm conduction with that of the median and ulnar nerves, and to determine the PCBm conduction abnormality rate in patients with CTS. Materials and Methods: The study included 99 hands of 60 patients with clinical CTS and 38 hands of 38 healthy controls. Sensory nerve conduction study (NCS) was performed on the median nerve, ulnar nerve, and PCBm, and onset latency, conduction velocity and amplitude were recorded. Additionally, differences in latency and velocity between the median nerve and PCBm, and the difference in latency between the median and ulnar nerves were calculated. Results: In all, 56% of the patients with CTS had abnormal PCBm conduction. Additionally, in 7 of 8 hands with abnormal sensation -both in the thenar eminence and abnormal sensory distribution along the main branch -NCS of the PCBm was also abnormal. Conclusions: The PCBm is not ideal as a comparator nerve for the neurophysiological diagnosis of CTS. The frequency of PCBm abnormality in CTS patients may be related to the concomitant damage in both of these nerves. Additionally, the present findings may help explain, at least in part, why patients with CTS often exhibit sensory involvement beyond the classical median nerve sensory borders.

Headache: The Journal of Head and Face Pain, 2014

Journal of Neuro-Oncology, 2000

A 20-year-old male patient admitted with intractable seizures and progressive dementia is present... more A 20-year-old male patient admitted with intractable seizures and progressive dementia is presented. Magnetic resonance imaging (MRI) examinations revealed diffuse leptomeningeal thickening, enhancement especially in the basal cisterns and multiple cystic formations in the brain stem, temporal lobes and basal ganglia. The pathologic examination from the right temporal lobe was consistent with leptomeningeal sarcoma. Marked regression of the symptoms and MRI lesions were detected following radiotherapy.

Clinical Neurophysiology, 2008

Clinical Neurophysiology, 2008

Clinical Neurophysiology, 2008

Objective: Clinical utility of nerve conduction studies (NCS) of the medial plantar and dorsal su... more Objective: Clinical utility of nerve conduction studies (NCS) of the medial plantar and dorsal sural nerves in the early detection of polyneuropathy have already been shown separately. However, at present, there is no data about the combined assessment of these two nerves in distal sensory neuropathy. In the present study, we aimed to evaluate the medial plantar and dorsal sural NCS in a group of diabetic patients with distal sensory neuropathy (DSN) and in healthy controls. Methods: Thirty healthy and 30 diabetic adult patients were included. In all subjects, peripheral motor and sensory NCS were performed bilaterally with surface electrodes on the lower limbs including medial plantar and dorsal sural nerves. In addition, motor and sensory nerves were studied unilaterally on the upper limb. Results: In all patients, nerve action potential (NAP) amplitudes of sural and superficial peroneal nerves were within normal ranges, but in the patient group mean value was significantly lower than in the controls. Among clinically defined 30 DSN patients, medial plantar NAP amplitude was abnormal in 18 (60%) and dorsal sural nerve amplitude was abnormal in 13 (40%) of the patients bilaterally. Additionally, the onset NCV of the dorsal sural nerve was significantly slower in patients than controls (P = 0.038). Evaluation of both of these nerves increased the sensitivity up to 70% in the detection of neuropathy.

Biochemical Journal, 2012

LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is a... more LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction. Magnetic resonance imaging shows characteristic abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. LBSL is caused by mutations in the gene DARS2, which encodes mtAspRS (mitochondrial aspartyl-tRNA synthetase). The selective involvement of specific white matter tracts in LBSL is striking since this protein is ubiquitously expressed. Almost all LBSL patients have one mutation in intron 2 of DARS2, affecting the splicing of the third exon. Using a splicing reporter construct, we find cell-type-specific differences in the sensitivity to these mutations: the mutations have a larger effect on exon 3 exclusion in neural cell lines, especially neuronal cell lines, than in nonneural cell lines. Furthermore, correct inclusion of exon 3 in the normal mtAspRS mRNA occurs less efficiently in neural cells than in other cell types, and this effect is again most pronounced in neuronal cells. The combined result of these two effects may explain the selective vulnerability of specific white matter tracts in LBSL patients.

Pandysautonomia is a severe and rare clinical condition characterized by widespread sympathetic a... more Pandysautonomia is a severe and rare clinical condition characterized by widespread sympathetic and parasympathetic dysfunction. Consideration of whether symptoms and presentation are acute, subacute, or chronic is often helpful in establishing a differential diagnosis. The underlying mechanisms leading to pure pandysautonomia are unclear; however, there is some evidence suggestive of an immune-mediated pathogenesis. Herein, we report a case with pandysautonomia as a paraneoplastic manifestation of non-small cell lung cancer that had an excellent response to symptomatic and supportive treatments, as well as IVIG therapy.