Members of the heat shock factor (HSF) family are evolutionarily conserved regulators that share a highly homologous DNA-binding domain. In mammals, HSF1 is the main factor controlling the stress-inducible expression of Hsp genes while the functions of HSF2 and HSF4 are less clear. Based on its developmental profile of expression, it was hypothesized that HSF2 may play an essential role in brain and heart development, spermatogenesis, and erythroid differentiation. To directly assess this hypothesis and better understand the underlying mechanisms that require HSF2, we generated Hsf2 knockout mice. Here, we report that Hsf2 ؊/؊ mice are viable and fertile and exhibit normal life span and behavioral functions. We conclude that HSF2, most probably because its physiological roles are integrated into a redundant network of gene regulation and function, is dispensable for normal development, fertility, and postnatal psychomotor function.The heat shock response is defined as the induced expression of Hsp genes in cells submitted not only to thermal stress but also to a plethora of other environmental conditions that can provoke protein misfolding and denaturation (30). First identified in Drosophila melanogaster, this pathway appears to be evolutionarily conserved from bacteria to humans. The regulatory mechanisms of the heat shock response have been extensively studied, demonstrating the role played by transcription factors (heat shock factors [HSFs]), which bind specific DNA sequences, termed the heat shock element (HSE). Screenings, based on homology at the level of the DNA-binding domain, have revealed that, in contrast to that found in lower organisms, mammals and chickens have evolved a family of HSFs (HSF1, HSF2, and HSF4 in mice and humans; HSF1, HSF2, and HSF3 in chickens) that are differentially and specifically expressed during embryonic development and organ differentiation (31,32,39,40). Based on these observations, it has been hypothesized that, beyond the heat shock response mainly controlled by HSF1, each regulatory protein may impart specialized or unique properties in mammals (reviewed in reference 34).

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Purpose To describe the frequency, type, and perceived effectiveness of physical therapy (PT) interventions for children with Friedreich Ataxia (FA); identify barriers to therapy; and solicit advice from parents. Method Parents of 30 children with FA participated in semi-structured interviews. Qualitative and quantitative methods were used to analyze the data. Results Sixty-seven percent of children received direct PT. Stretching and strengthening were used most frequently and their perceived usefulness increased as the children aged. Seventy-three percent received home exercise programs; 9% implemented these consistently. External barriers included a lack of expert providers and limited reimbursement. Internal barriers included limited time and energy, lack of awareness of services, and children’s preferences not to be treated differently. Parents advised therapists to become experts, advocates, and use approaches based on family and child preferences. Conclusions Outcomes provide a starting point for developing further research, education, and effective interventions for children with FA.

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