Evaluation of brain perfusion in Alzheimer disease with perfusion computed tomography and comparison to elderly patient without dementia.

BACKGROUND/AIM: The aim of this study was to evaluate perfusion computed tomography (PCT) findings in patients with Alzheimer disease and to compare them with those of patients without dementia. MATERIALS AND METHODS: PCT was performed in 35 patients: 20 with Alzheimer disease (mean age, 69.7 ± 5.5 years) and 15 control subjects (mean age, 67.5 ± 3.5 years). Control subjects were elderly individuals with no cognitive problems who were admitted with headaches. All PCT examinations were performed on a 4-slice CT unit. The PCT analysis software program was used to calculate regional cerebral blood flow (rCBF), regional cerebral blood volume (rCBV), regional time-to-peak (rTTP) values in the bilateral frontal, temporal, and occipital cortices, and bilateral lentiform nucleus. RESULTS: rCBF values in the bilateral frontal and temporal cortices and bilateral lentiform nucleus were significantly lower in the patients with Alzheimer disease than in the control subjects. There were no significant differences in rCBV values between Alzheimer disease and the control group. rTTP values in all cortical areas and bilateral lentiform nucleus were significantly higher in the patients with Alzheimer disease than in the control subjects. CONCLUSION: PCT is a rapid and reliable imaging modality for evaluating brain perfusion in Alzheimer disease.

A Rare Complication Developing After Hematopoietic Stem Cell Transplantation: Wernicke's Encephalopathy.

Thiamine is a water-soluble vitamin. Thiamine deficiency can present as a central nervous system disorder known as Wernicke's encephalopathy, which classically manifests as confusion, ataxia, and ophthalmoplegia. Wernicke's encephalopathy has rarely been reported following hematopoietic stem cell transplantation. Herein, we report Wernicke's encephalopathy in a patient with acute myeloid leukemia who had been receiving prolonged total parenteral nutrition after haploidentical allogeneic hematopoietic stem cell transplantation. To the best of our knowledge, this is the first case reported from Turkey in the literature.

Diagnostic value of T2*-weighted gradient-echo MRI for segmental evaluation in cerebral venous sinus thrombosis.

OBJECTIVE: We evaluated the diagnostic value of gradient-echo (GRE) imaging in patients with "cerebral venous and sinus thrombosis" (CVST). MATERIALS AND METHODS: In total, 130 thrombosed venous segment signal intensities in 45 patients with CVST were analyzed retrospectively using magnetic resonance imaging and magnetic resonance venography. RESULTS: The T2* GRE sequence had a diagnostic value for detecting acute and subacute superior sagittal sinus (SSS) thrombosis and thrombosis of the deep veins (DVs), and cortical veins (CVs; P<.05). CONCLUSIONS: The T2* GRE sequence had a high diagnostic value for detecting both acute and subacute SSS, DV, and CV thromboses.

Therapeutic Plasma Exchange in Neurologic Diseases: An Experience with 91 Patients in Seven Years.

INTRODUCTION: In this study, we report the results of our experience of therapeutic plasma exchange (TPE) for neuroimmunologic disorders performed at our hospital over a seven-year period. METHODS: We retrospectively reviewed the medical records of 91 patients (53 male, 38 female) who had been treated at our center with TPE. RESULTS: 60 patients with Guillain-Barrè syndrome (GBS), 23 with myasthenia gravis (MG), 4 with chronic inflammatory demyelinating polyneuropathy (CIDP) and 1 patient each with polymyositis, septic encephalopathy, acute disseminated encephalomyelitis (ADEM) and Opsoclonus-Myoclonus syndrome (OMS) received TPE. 26.7% of GBS patient's made complete recovery, 61.7% had partial recovery and 11.7% patients died due to respiratory failure. Despite our best efforts and effective TPE treatments, 13.4% of MG patients deceased, however, 78% had full recovery. Three patients with CIDP were discharged with full and 1 patient with partial recovery. The patient with ADEM had partial recovery with TPE at first, but deceased 2 months later due to pneumonia-related respiratory insufficiency. While, patient with polymyositis had slight-partial recovery, we obtained full recovery with TPE in septic encephalopathy and OMS patients. The side effects and complications of treatments with TPE, which included hypotension, hypocalcaemia and anemia, were mild and manageable. CONCLUSION: The improvement rates were encouraging and we concluded that significant benefit can be achieved with TPE for the treatment of neuroimmunological disorders.

If Neurologists Establish The Diagnosis of Primary Sjogren's Syndrome?

INTRODUCTION: Neurological involvements were shown in 20% of patients with Primary Sjogren's Syndrome (pSS). Neurological symptoms may be the first signs of pSS in 57% of the cases. In addition, early diagnosis and treatment of neurological disorders may save or improve the quality of life of these cases. There have been reports about the neurologic manifestations of pSS but little is known about the details of neurologically presented cases. METHOD: In this study, we described 11 pSS patients who presented with neurological manifestations. RESULTS: Central nervous system (CNS) involvement was recorded in 7 (63.7%) and peripheric nervous system (PNS) involvement in 4 cases (36.4%). CONCLUSION: Our findings regarding the cases with neurological manifestations leading to the diagnosis of pSS suggest that: 1) The frequency of CNS involvement was higher than that of PNS, and the most frequent clinical pictures of CNS involvement are Multiple Sclerosis (MS)-like illnesses and optic neuritis, 2) Guillain Barre Syndrome (GBS) was the most frequent disease of PNS involvement; 3) Mononeuropathy multiplex (MM) might be the first sign of pSS; 4) Neurologists should consider pSS in the differential diagnosis of cases with MS, optic neuritis, GBS and neuropathies of unknown causes including MM; 5) There is an urgent need of therapeutical guidelines for the cases with neurological involvement associated with pSS.

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromosome 13q12. Targeted next-generation sequencing of an affected individual followed by segregation analysis, population screening and prediction approaches revealed a novel missense variant, p.I376M, in ATP8A2. The mutation lies in a highly conserved C-terminal transmembrane region of E1 E2 ATPase domain. The ATP8A2 gene is mainly expressed in brain and development, in particular cerebellum. Interestingly, an unrelated individual has been identified, in whom mental retardation and severe hypotonia is associated with a de novo t(10;13) balanced translocation resulting with the disruption of ATP8A2. These findings suggest that ATP8A2 is involved in the development of the cerebro-cerebellar structures required for posture and gait in humans.

Human quadrupedalism is not an epiphenomenon caused by neurodevelopmental malformation and ataxia.

Two cases with quadrupedal locomotion (QL) were presented. In both cases, cognitive and psychiatric functions were normal and, no neurological deficits were observed, except for a sequel paralysis of left leg in Case 2. It was suggested that human QL (1) should not be considered as an epiphenomenon caused by neurodevelopmental malformation and ataxia, but (2) may be considered as a re-emergence of the ancestral diagonal QL, and (3) it may spontaneously emerge in humans with entirely normal brains, by taking advantage of neural networks such as central pattern generators that have been preserved for about 400 million years.

Lateralized α-motoneuron excitabilities during lying and standing of healthy individuals in relation to parkinsonian rigidity.

OBJECTIVES: To elucidate mechanisms of Parkinsonian rigidity by assessing excitability of alpha-motoneurons innervating right and left soleus muscles in healthy controls and Parkinson's disease (PD) patients with rigidities in the right, left and both legs. METHODS: One group of 45 controls was recruited and 60 PD patients in three groups: rigidities, predominantly in the right, left and both legs. H-reflex (H) and muscle response (M) were recorded from right and left soleus muscles during stimulations of the posterior tibial nerve at the popliteal fossa while lying and standing. The H/M ratio was taken as an index for motoneuron excitability. RESULTS: Mean H/M ratios were significantly different on the right and left sides, modified by postural changes in controls and PD patients. Analysis of variance showed that in healthy subjects the H/M ratio was: standing>lying (right), lying>standing (left). In right leg rigidity patients, the H/M ratio was greatest during standing, and smallest during lying. In left leg rigidity patients, the H/M ratios on the right and left sides were equally independent of posture. In controls, left H/M>right while lying, left, but

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1-13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological abnormalities in the cerebellum and corpus callosum, in particular atrophy of superior, middle, and inferior peduncles of the cerebellum. Structural magnetic resonance imaging showed additional morphometric abnormalities in several cortical areas, including the corpus callosum, precentral gyrus, and Brodmann areas BA6, BA44, and BA45. Targeted sequencing of the entire homozygous region in three affected individuals and two obligate carriers uncovered a private missense mutation, WDR81 p.P856L, which cosegregated with the condition in the extended family. The mutation lies in a highly conserved region of WDR81, flanked by an N-terminal BEACH domain and C-terminal WD40 beta-propeller domains. WDR81 is predicted to be a transmembrane protein. It is highly expressed in the cerebellum and corpus callosum, in particular in the Purkinje cell layer of the cerebellum. WDR81 represents the third gene, after VLDLR and CA8, implicated in quadrupedal locomotion in humans.

Hypertensive encephalopathy with atypical MRI leukoencephalopathy affecting brain stem and cerebellum.

Reversible posterior leukoencephalopathy syndrome associated with hypertension rarely presents with predominant involvement of the brainstem and sparing of the supratentorial regions. In this study, the clinical and neuroimaging features of a 39-year-old woman with hypertensive encephalopathy and magnetic resonance imaging (MRI) findings localized to pons and bilateral middle cerebellar peduncles were described. Reversible posterior leukoencephalopathy syndrome associated with hypertension rarely shows isolated brainstem and cerebellum involvement, and it is important to be familiar with the lack of correlation between the severity of the radiological abnormality and the clinical status.

A case of ecchordosis physaliphora presenting with an intratumoral hemorrhage.

Ecchordosis physaliphora is a rare congenital, benign, hamartomatous, retroclival mass derived from notochordal tissue that is typically located intradurally in the prepontine cistern. Ecchordosis physaliphora is usually asymptomatic. In rare cases, ecchordosis physaliphora can be symptomatic due to tumor expansion and compression of the surrounding structures and extratumoral hemorrhage. To our knowledge, ecchordosis physaliphora associated with intratumoral hemorrhage and vasogenic edema has not been previously described. We present a case of 22-year-old man who presented with headache and confusion. MR imaging and CT revealed intracranial ecchordosis physaliphora associated with intratumoral hemorrhage and vasogenic edema. The neurological findings resolved completely after medical therapy.

Unertan syndrome: a new variant of Unertan syndrome: running on all fours in two upright-walking children.

A new variant of Unertan Syndrome (UTS) is described in two Turkish children who exhibit both bipedal and quadrupedal locomotion and have normal cognitive abilities, including speech and intelligence. Quadrupedal locomotion was used by these individuals for rapid motivity when needed. An X-linked autosomal recessive transmission appears to be responsible for the UTS trait, with no intrafamilial marriages. The children did not show any neurological signs and symptoms except for a positive Babinski sign and an inability to perform a tandem walk. The results suggest that quadrupedality may result from using ancestral neural networks when needed. The preference for the quadrupedal gait as a hidden skill may be an example of learned dynamical adaptation to limited motor control, pointing out a phase transition in system dynamical terms. Human quadrupedality may have important consequences regarding human evolution with respect to the transition from quadrupedalism to bipedalism, which is generally recognized as important trait in the hominization process during human evolution.

Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).

Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes. It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2. To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins. Here, we report a novel missense mutation (c.836A>G), and two polymorphisms: a silent variant (c.102G>C), and a 5'-splice site mutation (IVS5+24C>T) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive CMT2.

Woman with Sickle Cell Disease with Current Sigmoid Sinus Thrombosis and History of Inadequate Warfarin Use during a Past Thrombotic Event.

We report a 20-year-old woman with sickle cell disease (SCD) who presented with a severe pulsating headache, nausea, and vomiting. Her history was significant for a past thrombotic event during which she had not used anticoagulation therapy as prescribed. Her mental status was mildly confused. On funduscopic examination, papilledema and retinal hemorrhages were found. Results of a computed tomogram were normal. A lumbar puncture demonstrated increased intracranial pressure (60 cm H(2)O). Magnetic resonance venography demonstrated a right sigmoid sinus thrombosis. Although SCD has been reported as a cause of thrombotic dural venous sinus events, this case increases the knowledge about neurological complications of SCD. The patient was treated with low molecular weight heparin, blood transfusions, acetazolamide, and methylprednisolone, and her symptoms and signs resolved.

Spinal MRI findings of guillain-barré syndrome.

Guillain-Barré syndrome is a relatively common, acute, and rapidly progressive, inflammatory demyelinating polyneuropathy. The diagnosis is usually established on the basis of symptoms and signs, aided by cerebrospinal fluid findings and electrophysiologic criteria. Previously, radiologic examinations have been used only to rule out other spinal abnormalities. We report a case of systemic lupus erythematosus associated with Guillain-Barré syndrome with marked enhancement of nerve roots of the conus medullaris and cauda equina on MR imaging. These MR observations may help confirm the diagnosis of Guillain-Barré syndrome.

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds from Turkey manifest this phenotype. In two families (A and D), shared homozygosity among affected relatives mapped the trait to a 1.3-Mb region of chromosome 9p24. This genomic region includes the VLDLR gene, which encodes the very low-density lipoprotein receptor, a component of the reelin signaling pathway involved in neuroblast migration in the cerebral cortex and cerebellum. Sequence analysis of VLDLR revealed nonsense mutation R257X in family A and single-nucleotide deletion c2339delT in family D. Both these mutations are predicted to lead to truncated proteins lacking transmembrane and signaling domains. In two other families (B and C), the phenotype is not linked to chromosome 9p. Our data indicate that mutations in VLDLR impair cerebrocerebellar function, conferring in these families a dramatic influence on gait, and that hereditary disorders associated with quadrupedal gait in humans are genetically heterogeneous.