Rchahilitaci_ja Letnik VII. 11111/ . -1 (!008/ 
DEMOGRAPHIC ANO PHENOTYPIC 
CHARACTERISATION OF DUR ALS 
PATIENTS 
V Zgonc, L. Dolenc Gr ošelj. 8. Koritnik, L. Le onardis, S. Ristic-Kovačič, V štukovnik, l. Zidar, 
J. Zidar
Institute of Clinical Neur ophysiology, University Medica! Cen tre Ljubljana, Ljubljana, Slove nia
Knowledge of clinical and epidemiological data on ALS 
patients assist physicians to identify prognostic factors of the 
disease what helps patients and their relatives to schedule 
their activities during disease course. 
Our aim was to analyse the available demographic and 
phenotypic disease characteristics f
r
om our ALS database 
that includes patients referred f
r
om October 2002 to July 
2008. 
We identified 124 patients (45% men, 55% women). Mean 
age at disease on set was 62 years (range 35-81, SD = 1 O 
years), 63 years (SD = 10) in women and 61 years (SD = 
11) in men. The disease started as spina( form in 58%, and
as bulbar form in 27%. Fifteen percent ofpatients could not
be unequi vocall y classified in either of these two categories.
Four patients (3%) had familial form of the disease. Accord­
ing to EI Escorial diagnostic criteria (EDC) at the tirne of
First referral, 26% of patients had definite, 40% probablc,
12% possible, and 22% suspicious form of ALS.
Walking problems in 77% of patients started on average 
10 months after admission (range 0-96, SO = 17). Forty 
percent of them were unable to ambulatc independently 
on average 25 months after admission (range 2-105, SD = 
23). Twenty-eight percent of patients were unable to fecd 
themselves, what on average happened 23 months after the 
diagnosis (range 5-69, SO = 16). Fifty-eight percent had 
speech problems that started on average after 11 months 
(range 0-102, SD = 19), 32% became anarthric (on average 
after 21 months, range 5-72, SD = 15). Swallowing problems 
had 62% of patients, on average 16 months (range 0-110. 
SD = 21) after disease onset and in 27% percutaneous endo­
scopic gastrostomy (PEG) was performed (on average after 
25 months after making the diagnosis, range 5-96, SO = 
21 ). Breathing problcms that on average started 25 months 
after admission (range 2-108, SO= 24) had 52% of patients, 
and 11 % opted for noninvasive ventilation, on average 30 
months after the diagnosis was made (range 7-110, SD = 
Ei 
26) while only 2 patients were tracheotomised. Among most
f
r
equently used drugs were riluzole (36% of patients) and
glycopyrrolate (22% ofpatients), both drugs being registered
in Slovenia since 2005, followed by antidepressants (21 %
of patients) and quinidine ( 12% of patients).
Sixty-five percent of patients f
r
om our register had already 
died. The median survival tirne f
r
om symptom onset was 
28 months (range 3-111, SO= 19) with the median age of 
death at 66 years (range 45-82, SO= 10). The median sur­
vival tirne after admission was 13 months (range 1-39, SD 
= 10). In those with PEG, the median survival tirne after this 
intervention was 7 months (range 0-23, SD = 7). 
The survival curves for the following variables were calcu­
lated by Kaplan-Meier method and compared with the log­
rank test. The hazard ratio was calculated for cach variable. 
The variables were: male vs. fe male f
r
om thc first symptom 
onset, male vs. female f
r
om the tirne of rcfcrral to our clinic, 
patients with bul bar vs. spina! forms of thc disease, median 
delay between the symptom onset and tirne of diagnosis 
(less or more than 15 months), median age at thc onset of 
first symptom (older and youngcr than 62 ycars), median 
grade of ALS Functional Rating Scale score at the time of 
referral (below and above 31 points), and median Norris 
ALS Ois ability Scale scorc at Lhe tirne of referral (below 
and above 80 points). The significantly better survival was 
identified only for patients with longer diagnostic delay 
(over 15 months; log-rank chi square = 23.23, p < 0.0001, 
HR (95% C[) = 3.7) and in a younger age group ( < 62 years 
at the tirne of the first symptom, log-ran k chi square = 9.98, 
p < 0.0016, HR (95% CI) = 2.1 ). 
Our database, that is regularly updated, was not designed 
to serve for the descriptive epidemiological studies and is 
insufficient in many other aspects as well. Its main aim 
was to support other possible clinical studies that neverthe­
less necessitate a prospective collection of separate sets of 
data. 

Rehabilitacija Letnik VII. .11111I . -J /2008) 
ACKNOWLEDGEMENTS 
The Organising Committee of the Symposiwn on Amyo­
trop hic Lateral Sclerosis with the 24'" D,: Janez Faganel 
Memorial Lecture gratefully acknowledges financial support 
of the 
general sponsors, thc British Council (The lnterna­
tio
nal Networkingfor Young Scientists Progra111111e) and the 
Slovenian Research Agency. 
Pharma, Boehringer lngelheim Pharma, Eli Lilly , Genzyme 
Europe, GSK, Janssen-Cilag, Krka, Lek, Lundbcck-Pharma, 
Medis, Mylan, Novartis, Ortosana, Pfizer, Pharmaswiss. 
Pliva Ljubljana, Pul modata, Sanofi-Aventis, and Torrex 
Chiesi Slovenia. 
We are pleased with participation of the following com­
panies (in alphabetical order): Auremiana, Bayer Schering 
The kind contribution and support of the Slovenian Muscular 
Dystrophy Association, the Republic of Slovenia [nstitute 
for Rehabilitation, the Slovenian Medica! Association, and 
the Mayor of Ljubljana is much appreciated. 
General Sponsors 
ee BRITISH 
••coUNCIL
GlaxoSm1thKlin 
Si/ver Sponsors 
1ni PharmaSwiss
Bronze Sponsors 
1 � �� KRK� 
11 
� M E D 1 s
Cojfee Break Sponsors 
/@\ Boehringer 
�,lllw' lngelheim
• 
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