LETTER TO THE EDITOR Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies L. Padua a,b , C. Pazzaglia a,b , T. Cavall- aro c , I. Commodari d , D. Pareyson e , A. Quattrone f , N. Rizzuto c,g , G. Vita h , P. A. Tonali a and A. Schenone i , the Italian CMT QoL Study Group* a Institute of Neurology, Universita ` Catto- lica, Rome; b Fondazione Don Carlo Gnoc- chi, Rome; c Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Verona; d Department of Neurosciences, Universita ` degli Studi, Catania; e Istituto Nazionale Neurologico ÔC. BestaÕ, Milan; f Azienda OU Policlinico di Catanzaro, Universita ` di Catanzaro, Catanzaro; g Policlinico GB Rossi, Universita ` di Verona, Verona; h Department of Neuroscience, Psychiatry and Anaesthesiology, Azienda OU Policli- nico di Messina, Messina; and i Department of Neurological and Vision Sciences, University of Genova, Genova, Italy Correspondence: Luca Padua, Institute of Neurology, Universita` Cattolica, L.go F. Vito 1 00168, Rome, Italy (tel.: +39 06 30156623; fax: +39 06 3550 1909; e-mail: lpadua@rm.unicatt.it). Keywords: hereditary neuropathy with liability to pressure palsies, quality of life, hereditary neuropathy Received 5 January 2006 Accepted 22 March 2006 Sirs, Over the last two decades, clinical researchers have emphasized the need for a thorough evaluation of concepts such as Health Related Quality of Life (QoL) to study the impact of chronic illnesses and their treatments on the patient’s life [1]. Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that results in a recur- rent, episodic demyelinating neuropathy. HNPP is associated with a 1.5-Mb dele- tion in chromosome 17p11.2–p12 that results in reduced expression of the PMP22 gene. Quality of Life assessment has been recently performed in the more frequent hereditary neuropathy, the Charcot Marie Tooth (CMT). CMT patients revealed a strong deterioration of QoL and further studies were suggested [2,3]. Quality of life has never been measured in HNNP. To assess QoL of patients with hereditary neuropathies we performed a prospective multicentre (six centres) mul- tidimensional study by using validated clinical, disability and QoL measurements [4]. We enrolled 13 patients affected by HNPP: five females, eight males, mean age 41.2 years (SD 13.6, range 22–66), mean duration of symptoms 19 years (range 2– 56). At the moment of the enrolment, four patients had motor deficit in upper limb district, five patients were not able to stay on their heel; three patients complained of paresthesiae in the upper limb district, four patients in the lower limb district and two patients in both. Five patients com- plained of instability in walking and in having an upright position. Six patients had pes cavus. At the moment of the enrolment only one patient was asympto- matic. We used the most common tool for QoL assessment: the Medical Outcome Study 36-item Short Form (SF-36) [5]. The large diffusion of SF-36 in scientific literature allows the use of the scale as a standard. SF-36 consists of 36 questions that inquire about the general health status of patients. This questionnaire provides eight specific categories of phys- ical and emotional scores (Physical Func- tioning, PF; Role Physical, RP; Bodily Pain; General Health; Vitality; Social Functioning; Role Emotional, RE; Men- tal Health). Low scores indicate deterior- ation of the health status. The official Italian version [6–8] was used; adminis- tration to the patients was performed in agreement with standardized methodolo- gies [5,8]. We compared the SF-36 results of our sample of HNPP patients with those of Italian norms [6,7] by using the one- sample t-test (see Table 1). We observed that QOL in HNPP is not impaired except for a mild deterioration of the PF domain; but this does not result in an inability to perform daily activity due to physical or mental problems (RP and RE which evaluate this two aspects are not signifi- cantly deteriorated with respect to the Italian norms). We think that QoL is not deteriorated in HNPP patients because deficits are usually focal and transitory. Interestingly, the awareness of being affected by a hereditary neurological disease associated with experienced transitory deficits, does not result in a deterioration of the mental aspects of QoL. Conversely, CMT pa- tients complain of deterioration of phys- ical and mental aspects of QoL probably because of permanent-worsening distal deficit at four limbs [2]. We do believe that we should consider these results in approaching HNPP and, although what is true of the group as whole will not necessarily be true for all individuals in a group, we should use them to reassure patients with HNPP, specially at the moment we communicate the diagnosis. Appendix List of further researchers involved (centre) 1 Grandis M, Benedetti L (Genova) 2 Caliandro P, Aprile I, Mignogna T (Rome) 3 Fabrizi GM (Verona) 4 Laura` M (Milano) 5 Mazzeo A, Majorana G (Messina) 6 Valentino P, Nistico` R (Catanzaro) References 1. Guyatt GH, Feeny DH, Patrick DL. Measuring health-related quality of life. Annals of Internal Medicine 1993; 118: 622–629. 2. Vinci P, Serrao M, Millul A, Deidda A, De Santis F, Capici S, Martini D, Pierelli F, Santilli V. Quality of life in patients with Charcot-Marie-Tooth disease. Neurology 2005; 65: 922–924. 3. Shy ME, Rose MR. Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it? Neurology 2005; 65: 790–791. 4. Padua L, Aprile I, Caliandro P, Pazzaglia C, Commodari I, Tonali P. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005; Letter. 5. Ware JE, Sherbourne CD, The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Medical Care 1992; 30: 473–483. 6. Apolone G, Mosconi P, Ware JE. Questio- nario Sullo Stato di Salute SF-36. Milano: Guerini e Associati, 1997. 7. Apolone G, Mosconi P. The Italian SF-36 Health Survey: translation, validation and norming. Journal of Clinical Epidemiology 1998; 51: 1025–1036. 8. Amadio PC, Outcomes measurements. Journal of Bone and Joint Surgery. American Volume 1993; 75: 1583. *See Appendix. The results reported are obtained from a study granted by Telethon (GUP 02169). Ó 2007 EFNS e45 European Journal of Neurology 2007, 14: e45–e46 doi:10.1111/j.1468-1331.2006.01545.x