Publications by authors named "Johanna Piispala"

Introduction: The cerebrospinal fluid dynamics in the human brain are driven by physiological pulsations, including cardiovascular pulses and very low-frequency (< 0.1 Hz) vasomotor waves. Ultrafast functional magnetic resonance imaging (fMRI) facilitates the simultaneous measurement of these signals from venous and arterial compartments independently with both classical venous blood oxygenation level dependent (BOLD) and faster arterial spin-phase contrast.

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Article Synopsis
  • - The study focuses on X-linked recessive type 3 Charcot-Marie-Tooth (CMTX3), a rare condition with a common genetic insertion found in affected patients.
  • - Optical genome mapping (OGM) in a male patient with symptoms similar to Dejerine-Sottas disease revealed a new genetic insertion linked to atypical CMTX3, which was inherited from his mother.
  • - The research suggests that further analysis of genomic rearrangements in a specific chromosome region should be included in diagnostic tests for childhood-onset CMT, as these genetic changes may disrupt important genes and contribute to related neurological symptoms.
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The potassium-chloride co-transporter 2, KCC2, is a neuron-specific ion transporter that plays a multifunctional role in neuronal development. In mature neurons, KCC2 maintains a low enough intracellular chloride concentration essential for inhibitory neurotransmission. During recent years, pathogenic variants in the KCC2 encoding gene affecting the functionality or expression of the transporter protein have been described in several patients with epilepsy of infancy with migrating focal seizures (EIMFS), a devastating early-onset developmental and epileptic encephalopathy.

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Introduction: Sleep increases brain fluid transport and the power of pulsations driving the fluids. We investigated how sleep deprivation or electrophysiologically different stages of non-rapid-eye-movement (NREM) sleep affect the human brain pulsations.

Methods: Fast functional magnetic resonance imaging (fMRI) was performed in healthy subjects ( = 23) with synchronous electroencephalography (EEG), that was used to verify arousal states (awake, N1 and N2 sleep).

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Objective: Infra-slow fluctuations (ISF, 0.008-0.1 Hz) characterize hemodynamic and electric potential signals of human brain.

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The physiological underpinnings of the necessity of sleep remain uncertain. Recent evidence suggests that sleep increases the convection of cerebrospinal fluid (CSF) and promotes the export of interstitial solutes, thus providing a framework to explain why all vertebrate species require sleep. Cardiovascular, respiratory and vasomotor brain pulsations have each been shown to drive CSF flow along perivascular spaces, yet it is unknown how such pulsations may change during sleep in humans.

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Objective: Our goal was to discover attention- and inhibitory control-related differences in the main oscillations of the brain of children who stutter (CWS) compared to typically developed children (TDC).

Methods: We performed a time-frequency analysis using wavelets, fast Fourier transformation (FFT) and the Alpha/Theta power ratio of EEG data collected during a visual Go/Nogo task in 7-9 year old CWS and TDC, including also the time window between consecutive tasks.

Results: CWS showed significantly reduced occipital alpha power and Alpha/Theta ratio in the "resting" or preparatory period between visual stimuli especially in the Nogo condition.

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Objective: The aim of the study was to investigate inhibitory control by evaluating possible differences in the strength and distribution of the brain activity in a visual Go/Nogo task in children who stutter (CWS) compared to typically developing children (TDC).

Methods: Eleven CWS and 19 TDC participated. Event related potentials (ERP) were recorded using a 64-channel EEG-cap during an equiprobable visual Go/Nogo task.

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Purpose Of The Study: The main aim of the study was to investigate the attentional and inhibitory abilities and their underlying processes of children who stutter by using behavioural measurement and event-related potentials (ERP) in a visual Go/Nogo paradigm.

Methods: Participants were 11 children who stutter (CWS; mean age 8.1, age range 6.

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