Frontal-lobe mediated behavioral dysfunction appears to be common in ALS. Cognitively impaired ALS patients had greater behavioral dysfunction. Recognition of behavioral and cognitive dysfunction may assist health-care providers and care-givers recognize changes in decision-making capacity and treatment compliance of patients with ALS.

Background Several metabolic derangements associated with diabetes mellitus type 2 (DM) have been associated with a better outcome in amyotrophic lateral sclerosis (ALS), including hyperlipidemia and obesity. Here, we tested the hypothesis that DM would have a positive effect on the motor and cognitive findings of ALS. Methods: We compared data from ALS patients with pre-morbid DM (ALS-DM; n = 175) versus without DM (ALS; n = 2196) with regard to the age of onset, rate of motor progression, survival, and neuropsychological test performance. Results: The age of onset was later for women, Caucasians and patients with bulbaronset ALS. However, we also found that after adjusting for gender, ethnicity and site of onset, DM was associated with a 4-year later onset of ALS (ALS = 56.3, ALS-DM = 60.3, P < 0.05). Conclusion: Diabetes mellitus type 2 may delay the onset of motor symptoms in ALS. These findings support other studies suggesting a relationship between the pathophysiology of ALS and metabolic derangements. Further investigations are needed to ascertain whether manipulating metabolic parameters would improve outcomes in ALS.

The prevalence and pattern of cognitive impairment in familial ALS (fALS) is similar to that of sporadic ALS. For patients with fALS, the site of symptom onset did not correlate with cognitive impairment, but age did. Future studies will determine whether cognitive impairment in fALS correlates with specific genetic mutations or polymorphisms.

Complex regional pain syndrome (CRPS) is characterized by pain in association with sensory and vasomotor changes in the affected area. The reported incidence of CRPS ranges from 5.5 to 26.2 per 100.000 person years.1-2 The disorder commonly affects women (60-81% of cases) between the ages of 35-45 years. [3][4] There are two clinical sub-types of CRPS: CRPS I, formerly called reflex sympathetic dystrophy, does not have evidence of nerve lesions, whereas CRPS II, formerly called causalgia, has obvious nerve damage. 5 The International Association for the Study of Pain (IASP) 5 diagnostic criteria for CRPS I are 1) the presence of an initiating noxious event or a cause of immobilization; 2) continuing pain, allodynia or hyperalgesia; 3) evidence at some time of edema, vasomotor changes or abnormal sudomotor activity in the area of pain; and, 4) the absence of ABSTRACT: Background: The etiology of complex regional pain syndrome (CRPS) is unknown. Different environmental and genetic factors have been postulated to contribute to CRPS. Methods: We reviewed the clinical data from a cohort of 69 patients with CRPS. Four families were identified with two or more members affected with CRPS yielding a total of nine patients. Six more patients reported the presence of pain symptoms in their family members, however; this could not be clinically confirmed. Results: The case histories of the nine individuals with 'familial' CRPS suggested a younger age at onset and more frequent history of migraine versus the non-familial patients. A pattern of inheritance could not be ascertained. Conclusion: This data supports the hypothesis that CRPS can be familial and hence may have a genetic basis in some families. Larger studies will be needed to ascertain clearer patterns of inheritance and to determine whether the clinical features of 'familial' CRPS are the same as the sporadic form.RÉSUMÉ: Cas familiaux du syndrome douloureux régional complexe. Contexte : L'étiologie du syndrome douloureux régional complexe (SDRC) est inconnue. Certains facteurs environnementaux et génétiques pourraient être en cause. Méthodes : Nous avons révisé les données cliniques d'une cohorte de 69 patients atteints du SDRC. Nous avons identifié quatre familles dont deux membres ou plus étaient atteints de SDRC, soit 9 patients en tout. Six autres patients ont rapporté la présence de douleurs chez des membres de leur famille, sans toutefois que nous puissions le confirmer en clinique. Résultats : L'anamnèse faite chez les 9 individus atteints du SDRC « familial » a mis en évidence un début de la maladie plus précoce et une histoire de migraine plus fréquente chez ces individus que chez les patients dont les apparentés ne sont pas atteints. Aucun mode d'hérédité n'a pu être identifié. Conclusion : Ces données sont en faveur de l'hypothèse selon laquelle le SDRC peut être familial et donc qu'il pourrait exister un fondement génétique dans certaines familles. Des études comportant un plus grand nombre de sujets devront être entreprises pour en établir le mode d...

Our results suggest that ApoE genotype does not modify clinical course of sporadic ALS, in stark contrast to the influence of ApoE genotype on the disease course of AD and other neurodegenerative disorders.

Several studies have demonstrated impaired cognition in amyotrophic lateral sclerosis (ALS) patients, but it has been difficult to identify risk factors for this impairment. An association between cognitive changes and bulbar site of onset or dysarthria has been suggested, but the findings are variable. We tested for both associations in a large cohort of ALS patients. At the time of diagnosis of sporadic ALS, all patients (n=355) in this prospective study underwent comprehensive neuropsychological testing. In addition, a subset of 175 patients underwent a detailed assessment of dysarthria, which was quantified using the Appel ALS Score (AALSS). ALS patients with bulbar site of onset performed significantly worse than limb onset patients on a few timed ((VSAT-time, p<0.05), (Stroop Color, p<0.05), (Stroop Word, p<0.05)) tests of frontal lobe functions, but the significance could not be replicated when motor impairment was accommodated into the tests ((VSAT-errors, p=0.73), (Stroop interference, p=0.08)). ALS patients with dysarthria performed significantly worse than non-dysarthrics on multiple timed ((BD, p<0.05), (VSAT-time, p<0.05), (Stroop Color, p<0.05), (Stroop Word, p<0.05), (Trails A, p<0.05), (Trails B, p<0.05)) neuropsychological tests, and the significance was maintained when motor impairment was accommodated into one of these tests (Stroop interference, p<0.05). Additionally, dysarthrics performed significantly worse on two untimed measures of cognition ((Similarities, p<0.05), (Rey Copy, p<0.05)). Cognitive functioning in ALS does not associate with the site of onset and has a moderate association with dysarthria.

No abstract

This case report concerns a prepubertal patient (height 148.7 cm) with congenital anterior panhypopituitarism diagnosed at the chronological age of 25.2 years (bone age 12.5). In spite of his advanced age on initiation of hormonal replacement therapy this patient achieved an adult height (172.8 cm), exceeding those of his father and brothers, because of his markedly delayed bone age. This satisfactory height outcome confirms that final height in hypopituitarism depends on both height at onset of puberty and height with respect to bone age but not chronological age at initiation of growth hormone treatment.