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Amyotrophic lateral sclerosis (ALS) is a late onset, rapidly progressive and ultimately fatal neurological disorder, caused by the loss of motor neurons in the brain and spinal cord. Familial aggregation of ALS, with an age-dependent but high penetrance, is a major risk factor for ALS. Familial ALS (FALS) is clinically and genetically heterogeneous. Three genes and linkage to four additional gene loci have been identified so far and may either predominantly lead to ALS (ALSI-ALS6) or cause multisystem neurodegeneration with ALS as an occasional symptom (tauopathies, ALS-dementia complex). This review presents a tentative classification of the “major” ALS genes and ALS “susceptibility” genes, that may act as susceptibility factors for neurodegeneration in interaction with other genetic or environmental risk factors. Considering that mutations in ALS genes explain approximately 10% of familial as well as sporadic ALS, and most remaining cases of the discase are thought to result form the interaction of several genes and environmental factors, ALS is a paradigm for multifactorial discases. [ABSTRACT FROM AUTHOR]

AIM: The purpose of the present study was to distinguish the effects of both diabetes mellitus type 2 (DM2) and diabetic polyneuropathy (DPN) on mobility, muscle strength and health related quality of life (HR-QoL). METHODS: DPN patients (n=98), DM2 patients without DPN (DC) (n=39) and healthy subjects (HC) (n=19) performed isometric and isokinetic lower limb muscle strength tests. Mobility was determined by a timed up and go test (TUGT), a 6min walk test and the physical activity scale for the elderly questionnaire. HR-QoL was determined by the SF36 questionnaire. RESULTS: DPN patients had moderate polyneuropathy. In both DPN and DC patients leg muscle strength was reduced by 30-50% compared to HC. Muscle strength was correlated with mobility tests, and reduced muscle strength as well as impaired mobility were associated with a loss of HR-Qol (all p<0.05). We did not observe major differences in muscle strength, mobility (except for the TUGT, p<0.01) and HR-QoL between diabetic patients with and without DPN. CONCLUSION: DM2 patients, with and without DPN, have decreased maximal muscle strength in the lower limbs and impaired mobility. These abnormalities are associated with a loss of HR-QoL. The additional effect of moderate DPN was small in our patients. [ABSTRACT FROM AUTHOR]