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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.


Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms

Friedreich's ataxia (FRDA) is the most common early onset inherited ataxia with clinical manifestations, including gradual progression of unremitting cerebellar-sensory ataxia, peripheral sensory loss, loss of lower limb tendon reflexes and hypertrophic cardiomyopathy. Although atrophy of the superior cerebellar peduncle (SCP) has been reported in several magnetic resonance imaging (MRI) studies of FRDA, the relationship of SCP changes to genetic and clinical features of FRDA has not been investigated.

Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms

The Test of Everyday Attention Reveals Significant Sustained Volitional Attention and Working Memory Deficits in Friedreich Ataxia

Sustained volitional attention and working memory capacity was examined for the first time in people with Friedreich ataxia (FRDA). We administered subtests of the Test of Everyday Attention to 16 individuals with molecularly confirmed FRDA and gender-, age-, and IQ-matched controls. Clinically significant impairment in working memory and sustained volitional attention was evident.

The Test of Everyday Attention Reveals Significant Sustained Volitional Attention and Working Memory Deficits in Friedreich Ataxia

Whole-body vibration alters blood flow velocity and neuromuscular activity in Friedreich's ataxia

The purpose of this study was to investigate the effects of whole-body vibration (WBV) on blood flow velocity and muscular activity after different vibration protocols in Friedreich's ataxia (FA) patients. After two familiarization sessions ten patients received six 3 min WBV treatments depending on a combination of frequency (10, 20 or 30 Hz) and protocol (constant or fragmented).

Whole-body vibration alters blood flow velocity and neuromuscular activity in Friedreich's ataxia

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit

Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 IU/kg. Epoetin alfa had no acute effect on frataxin, whereas a delayed and sustained increase in frataxin was evident at 3 months after the first dose (+35%; P < 0.05), and up to 6 months after the second dose (+54%; P < 0.001). The treatment was well tolerated and did not affect hematocrit, cardiac function, and neurological scale.

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit

Spectral measures of the effects of Friedreich's ataxia on speech

This study identifies two measures of the effects of Friedreich's ataxia (FRDA) on speech motor control. Speech samples of 17 healthy controls and 37 speakers with dysarthria associated with FRDA were recorded during one structured and one unstructured speaking task. Two measures of spectral variation were used that relate to the rate and range of changes that occur in the spectral envelope.

Spectral measures of the effects of Friedreich's ataxia on speech

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