Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient

Abstract

Despite the fact that considerable progress has been made in the last 20 years regarding the three-phase process of ingestion and the lower brain stem nuclei involved in it, no comprehensive descriptions of the ingestion-related lower brain stem nuclei are available for neuropathologists confronted with ingestive malfunctions. Here, we propose guidelines for the pathoanatomical investigation of these nuclei based on current knowledge with respect to ingestion and the nuclei responsible for this process. The application of these guidelines is described by drawing upon the example of the lower brain stem of a male patient with spinocerebellar ataxia type 3, also known as Machado-Joseph disease, who displayed malfunctions during the preparatory phase of ingestion, as well as lingual and pharyngeal phases of swallowing. By way of the representative application of the recommended investigation procedure to 100 microm serial sections through the patient's brain stem stained for lipofuscin pigment and Nissl material, we observed neuronal loss together with astrogliosis in nearly all of the ingestion-related lower brain stem nuclei (motor, principal and spinal trigeminal nuclei; facial nucleus; parvocellular reticular nucleus; ambiguous nucleus, motor nucleus of the dorsal glossopharyngeal and vagal area; gelatinous, medial, parvocellular and pigmented solitary nuclei; hypoglossal nucleus). In view of their known functional role in the three-phase process of ingestion, damage to these nuclei not only offers an explanation of the patient's malfunctions related to the preparatory phase of ingestion and lingual and pharyngeal phases of swallowing, but also suggests that the patient may have suffered from additional esophageal phase swallowing malfunctions not mentioned in his medical records.

Rehabilitation in patients with cerebellar ataxias

“…They found that the earlier the age of onset, the more severe the progression of SCA3, and the later the age of onset, the less severe the progression of disease. Same findings were also noted by other authors 49,50 . Vogel and colleagues 51 observed that dysarthria and swallowing deficit could be correlated to disease severity and progression in SCA.…”

“…Patients with degenerative ataxias have greater difficulty swallowing liquids than solid foods, and penetration is significantly higher for liquids than solid foods 54 . Therefore, early intervention to improve oral motor control and adapt food viscosity and bolus volume 49 , 52 , 55 may increase patients QoL and survival.…”

Axonal inclusions in spinocerebellar ataxia type 3

“…Thereafter, tissue blocks from the left cerebral hemispheres and brainstems were embedded in polyethylene glycol (PEG 1000, Merck, Darmstadt, Germany) [44] and cut into sets of uninterrupted series of 100 μm-thick frontal sections (cerebral tissue blocks) or 100 μm-thick horizontal sections (brainstem tissue blocks) [8, 32]. Brainstem tissue blocks from case 7 were also embedded in paraffin and cut into 10 μm thick horizontal sections.…”

Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3

“…In other scientific studies, 4 32 the authors have shown that difficulty swallowing is associated with compromised QOL. Early identification and assessment of impairment is required.…”