Search Results - "Niemela, Valter"

Tau or neurofilament light-Which is the more suitable biomarker for Huntington's disease? by Niemelä, Valter, Landtblom, Anne-Marie, Blennow, Kaj, Sundblom, Jimmy

“…Previous studies have suggested cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and total tau are elevated in Huntington's disease (HD) and may…”
Get full text

Levels of inflammatory cytokines MCP-1, CCL4, and PD-L1 in CSF differentiate idiopathic normal pressure hydrocephalus from neurodegenerative diseases by Braun, Madelene, Boström, Gustaf, Ingelsson, Martin, Kilander, Lena, Löwenmark, Malin, Nyholm, Dag, Burman, Joachim, Niemelä, Valter, Freyhult, Eva, Kultima, Kim, Virhammar, Johan

“…Abstract Background Neuroinflammatory processes have been suggested to play a role in the pathophysiology of neurodegenerative diseases and post-hemorrhagic…”
Get full text

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy by Berntsson, Shala Ghaderi, Matsson, Hans, Kristoffersson, Anna, Niemelä, Valter, van Duyvenvoorde, Hermine A., Richel-van Assenbergh, Cindy, van der Klift, Heleen M., Casar-Borota, Olivera, Frykholm, Carina, Landtblom, Anne-Marie

“…We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376 ) after the onset of muscle weakness in his…”
Get full text

Higher levels of neurofilament light chain and total tau in CSF are associated with negative outcome after shunt surgery in patients with normal pressure hydrocephalus by Braun, Madelene, Bjurnemark, Caroline, Seo, Woosung, Freyhult, Eva, Nyholm, Dag, Niemelä, Valter, Blennow, Kaj, Zetterberg, Henrik, Fällmar, David, Kultima, Kim, Virhammar, Johan

“…Lumbar punctures are a common examination in the work-up of patients with idiopathic normal pressure hydrocephalus (iNPH) and cerebrospinal fluid (CSF)…”
Get full text

Proenkephalin Decreases in Cerebrospinal Fluid with Symptom Progression of Huntington's Disease by Niemela, Valter, Landtblom, Anne‐Marie, Nyholm, Dag, Kneider, Maria, Constantinescu, Radu, Paucar, Martin, Svenningsson, Per, Abujrais, Sandy, Burman, Joachim, Shevchenko, Ganna, Bergquist, Jonas, Sundblom, Jimmy

“…ABSTRACT Objective Identifying molecular changes that contribute to the onset and progression of Huntington's disease (HD) is of importance for the development…”
Get full text

Cerebrospinal fluid sCD27 levels indicate active T cell-mediated inflammation in premanifest Huntington's disease by Niemelä, Valter, Burman, Joachim, Blennow, Kaj, Zetterberg, Henrik, Larsson, Anders, Sundblom, Jimmy

“…Huntington's disease (HD) is a neurodegenerative disorder, but evidence also suggests neuroinflammation in the pathogenesis. The immune mechanisms involved and…”
Get full text

Alterations in the tyrosine and phenylalanine pathways revealed by biochemical profiling in cerebrospinal fluid of Huntington’s disease subjects by Herman, Stephanie, Niemelä, Valter, Emami Khoonsari, Payam, Sundblom, Jimmy, Burman, Joachim, Landtblom, Anne-Marie, Spjuth, Ola, Nyholm, Dag, Kultima, Kim

“…Huntington’s disease (HD) is a severe neurological disease leading to psychiatric symptoms, motor impairment and cognitive decline. The disease is caused by a…”
Get full text

Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease by Korpela, Sara, Sundblom, Jimmy, Zetterberg, Henrik, Constantinescu, Radu, Svenningsson, Per, Paucar, Martin, Niemelä, Valter

“…Huntington's disease (HD) is a hereditary neurodegenerative disease, currently lacking disease-modifying treatments. Biomarkers are needed for objective…”
Get full text

High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study by Sundblom, Jimmy, Niemelä, Valter, Ghazarian, Maria, Strand, Ann-Sofi, Bergdahl, Ingvar A., Jansson, Jan-Håkan, Söderberg, Stefan, Stattin, Eva-Lena

“…Trinucleotide (CAG) repeat expansions longer than 39 in the huntingtin ( HTT ) gene cause Huntington’s disease (HD). The frequency of intermediate alleles (IA)…”
Get full text

Aniridia with PAX6 mutations and narcolepsy by Berntsson, Shala Ghaderi, Kristoffersson, Anna, Daniilidou, Makrina, Dahl, Niklas, Ekström, Curt, Semnic, Robert, Markström, Agneta, Niemelä, Valter, Partinen, Markku, Hallböök, Finn, Landtblom, Anne‐Marie

“…PAX6 gene mutations cause a variety of eye and central nervous system (CNS) abnormalities. Aniridia is often accompanied by CNS abnormalities such as pineal…”
Get full text

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders by Paucar, Martin, Laffita-Mesa, José, Niemelä, Valter, Malmgren, Helena, Nennesmo, Inger, Lagerstedt-Robinson, Kristina, Nordenskjöld, Magnus, Svenningsson, Per

“…To perform a screening for Huntington disease (HD) phenocopies in a Swedish cohort. Seventy-three DNA samples negative for HD were assessed at a tertiary…”
Get full text

Measurement of sCD27 in the cerebrospinal fluid identifies patients with neuroinflammatory disease by Feresiadou, Amalia, Nilsson, Kenneth, Ingelsson, Martin, Press, Rayomand, Kmezic, Ivan, Nygren, Ingela, Svenningsson, Anders, Niemelä, Valter, Gordh, Torsten, Cunningham, Janet, Kultima, Kim, Larsson, Anders, Burman, Joachim

“…Laboratory tests to assist in the diagnosis and monitoring of neuroinflammatory diseases are scarce. The soluble form of the CD27 molecule (sCD27) is shed in…”
Get full text

Psychosis in patients with narcolepsy as an adverse effect of sodium oxybate by Sarkanen, Tomi, Niemelä, Valter, Landtblom, Anne-Marie, Partinen, Markku

“…Hypnagogic and hypnopompic hallucinations are characteristic symptoms of narcolepsy, as are excessive daytime sleepiness, cataplexy, and sleep paralysis…”
Get full text

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations by Niemelä, Valter, Salih, Ammar, Solea, Daniela, Lindvall, Björn, Weinberg, Jan, Miltenberger, Gabriel, Granberg, Tobias, Tzovla, Aikaterini, Nordin, Love, Danfors, Torsten, Savitcheva, Irina, Dahl, Niklas, Paucar, Martin

“…To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. Clinical assessments, targeted genetic…”
Get full text

F67 Diagnosing both normal pressure hydrochephalus and huntingtons disease in a single patient by Grétarsdóttir, Helga María, Niemelä, Valter, Virhammar, Johan, Fällmar, David

“…BackgroundMotor symptoms in normal pressure hydrocephalus (NPH) include a wide-based shuffling gait with a loss of postural reflexes. In addition, it can…”
Get full text

D2 Cerebrospinal fluid biomarkers in huntington’s disease by Niemelä, Valter, Blennow, Kaj, Landtblom, Anne-Marie, Sundblom, Jimmy

“…BackgroundNeurofilament light chain (NFL) is an important protein in the cytoskeleton, and it is generally accepted as a marker of permanent neuronal damage…”
Get full text

Cognitive decline in Huntington's disease expansion gene carriers by Baake, Verena, Reijntjes, Robert H.A.M., Dumas, Eve M., Thompson, Jennifer C., Roos, Raymund A.C.

“…In Huntington's Disease (HD) cognitive decline can occur before unequivocal motor signs become apparent. As cognitive decline often starts early in the course…”
Get full text

Narcolepsy as a side effect of swine flu vaccination by Boström, I., Ghaderi Berntsson, S., Zheliba, N., Gauffin, H., Kristoffersson, A., Niemelä, V., Landtblom, A.M.

Get full text

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy by Berntsson, Shala Ghaderi, Matsson, Hans, Kristoffersson, Anna, Niemelä, Valter, van Duyvenvoorde, Hermine A, Richel-van Assenbergh, Cindy, van der Klift, Heleen M, Casar-Borota, Olivera, Frykholm, Carina, Landtblom, Anne-Marie

“…We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376) after the onset of muscle weakness in his…”
Get full text