Burrell James R, Vucic Steve, Kiernan Matthew C
Prince of Wales Clinical School, University of New South Wales, Australia.
Amyotroph Lateral Scler. 2011 Jul;12(4):283-9. doi: 10.3109/17482968.2011.551940.
Typical bulbar-onset ALS generally portends a poor prognosis. To determine whether a relatively isolated bulbar phenotype (IBP) may have a better prognosis, patients with bulbar onset presentations were prospectively assessed, with IBP defined by an absence of limb progression over an initial six-month period. Clinical features and neurophysiological characteristics were compared. From a cohort of 300 consecutive referrals, 32 patients with bulbar onset disease (21 females, 11 males) were identified and compared to 23 age-matched control subjects. In total, patients were followed for 54 months. Twelve patients were identified with IBP (nine female, three male) and 20 had more typical bulbar ALS (12 female, eight male). Clinically, IBP was characterized by greater female predominance and upper motor neuron bulbar involvement. Compound motor action potential amplitudes were preserved in IBP compared to bulbar ALS (IBP, 7.1 mV; bulbar ALS, 4.2 mV, p <0.05), as was the neurophysiological index (IBP, 1.2; bulbar ALS 0.5, p <0.05). Furthermore, short interval intracortical inhibition was normal in IBP and reduced in typical bulbar ALS. In conclusion, patients with IBP were typically female with prominent upper motor neuron bulbar features and had normal cortical excitability. Biomarkers of cortical excitability may prove useful for further classifying ALS.
典型的延髓起病型肌萎缩侧索硬化症（ALS）通常预后较差。为了确定相对孤立的延髓表型（IBP）是否可能有更好的预后，对延髓起病表现的患者进行了前瞻性评估，IBP定义为在最初六个月内无肢体进展。比较了临床特征和神经生理特征。在连续转诊的300例患者队列中，确定了32例延髓起病疾病患者（21例女性，11例男性），并与23例年龄匹配的对照受试者进行比较。患者总共随访了54个月。确定12例患者为IBP（9例女性，3例男性），20例为更典型的延髓型ALS（12例女性，8例男性）。临床上，IBP的特征是女性占比更高以及上运动神经元延髓受累。与延髓型ALS相比，IBP的复合运动动作电位幅度得以保留（IBP为7.1 mV；延髓型ALS为4.2 mV，p<0.05），神经生理指数也是如此（IBP为1.2；延髓型ALS为0.5，p<0.05）。此外，IBP的短间隔皮质内抑制正常，而典型延髓型ALS则降低。总之，IBP患者通常为女性，具有突出的上运动神经元延髓特征，且皮质兴奋性正常。皮质兴奋性生物标志物可能对进一步分类ALS有用。
