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Contains fulltext : 49018.pdf (Publisher’s version ) (Closed access)

Contains fulltext : 79639.pdf (Publisher’s version ) (Closed access)

Contains fulltext : 80492.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication. DESIGN: Case series. SETTING: Tertiary referral center. PATIENTS: One hundred four Dutch patients with an adult-onset, sporadic upper motor neuron syndrome of at least 3 years' duration. Hereditary spastic paraparesis was genetically confirmed in 14 patients (7 with SPG4 and 7 with SPG7 mutations). RESULTS: All 14 patients with the SPG4 or SPG7 mutation had symptom onset in the legs, and 1 of the patients with the SPG7 mutation also developed symptoms in the arms. Of the other 90 patients, 78 (87%) had symptom onset in the legs. Thirty-six patients developed a PLS phenotype (bulbar region involvement), 15 had a phenotype that was difficult to classify as similar to HSP or PLS (involvement of legs and arms only), and 39 continued to have a phenotype similar to typical HSP (involvement of the legs only). Median age at onset was lower in patients with the SPG4 or SPG7 mutation (39 [range, 29-69] years), but there was considerable overlap with patients with the PLS phenotype (52 [range, 32-76] years). No differences were found in the features used by previous studies to distinguish HSP from PLS, including evidence of mild dorsal column impairment (decreased vibratory sense or abnormal leg somatosensory evoked potentials), symptoms of urinary urgency, or mild electromyographic abnormalities. CONCLUSIONS: In most patients with a sporadic adult-onset upper motor neuron syndrome, differentiation of sporadic presentations of HSP from PLS based on clinical characteristics is unreliable and therefore depends on results of genetic testing.

Contains fulltext : 80567.pdf (Publisher’s version ) (Open Access)

Contains fulltext : 77453.pdf (Publisher’s version ) (Closed access) Apathy and depression are common neuropsychiatric features of Huntington's disease. The authors studied a group of 34 Huntington's disease patients. In addition to the conventional classification according to DSM-IV criteria of depression, emphasis was put on a dimensional approach using scores on several different scales. Severe depression was found in 12% and severe apathy in 52% of all study patients. The authors found that apathy and depression are not related and are clearly distinct dimensions. Apathy was related to disease characteristics such as cognitive deterioration and functional decline, whereas depression was not. 5 p.

Contains fulltext : 70269.pdf (Publisher’s version ) (Closed access) Falls are common in patients with Huntington's disease, but the incidence, falling circumstances and contributing factors have never been examined. We recorded falls in 45 early to midstage Huntington's disease patients, both retrospectively (12 months) and prospectively (3 months). Fall rates were related to relevant baseline measures, including the Unified Huntington's Disease Rating Scale (UHDRS) and quantitative measures of balance (using angular velocity sensors) and gait (using a pressure-sensitive walkway). Balance and gait measures were compared between patients and 27 healthy age-matched controls. Twenty-seven patients (60%) reported two or more falls in the previous year and were classified as fallers. During prospective follow-up 40% reported at least one fall. A high proportion of falls (72.5%) caused minor injuries. Compared to nonfallers, fallers showed significantly higher scores for chorea, bradykinesia and aggression, as well as lower cognitive scores. Compared to controls, Huntington patients had a decreased gait velocity (1.15 m/s versus 1.45 m/s, P < 0.001) and a decreased stride length (1.29 m versus 1.52 m, P < 0.001). These abnormalities were all significantly greater in fallers compared to nonfallers. In addition, fallers had an increased stride length variability and a significantly greater trunk sway in medio-lateral direction compared to nonfallers. We conclude that falls are common in Huntington's disease. Contributing factors include a combination of "motor" deficits (mainly gait bradykinesia, stride variability and chorea, leading to excessive trunk sway), as well as cognitive decline and perhaps behavioral changes. These factors should be considered as future targets for therapies that aim to reduce falls in Huntington's disease.

Contains fulltext : 53377.pdf (Publisher’s version ) (Closed access)

Contains fulltext : 49552.pdf (Publisher’s version ) (Closed access) We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCgamma. While most affected subjects displayed a late-onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural tremor), one patient presented with a very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus.

Contains fulltext : 51507.pdf (Publisher’s version ) (Closed access)

Contains fulltext : 83223.pdf (Publisher’s version ) (Open Access) Radboud Universiteit Nijmegen, 13 januari 2011 Promotor : Kremer, H.P.H. Co-promotores : Verbeek, M.M., Waal, R.M.W. de 184 p.

Contains fulltext : 82007.pdf (Publisher’s version ) (Open Access) Radboud Universiteit Nijmegen, 21 september 2010 Promotor : Kremer, H.P.H. Co-promotores : Jansen, R.W.M.M., Verbeek, M.M. 167 p.