Case 2 From Literature

In 1994, Rinne and colleagues published two papers on the neuropathology of three cases with "neuroacanthocytosis", one of whom had MLS [22, 23]. Of note, this was a manifesting 51 years old female heterozygote patient published a few years earlier by Hardie et al. ([14], case 5; also discussed in chapters by Danek et al. and Gandhi et al.). The woman had the prototypic clinical features of MLS including progressive chorea and cognitive decline [14]. Neuropathological evaluation revealed a normal brain weight [23]. On coronal sections, a symmetric dilatation of the lateral ventricles and marked atrophy of the striatum, in particular in its anterior areas, were seen. The brainstem was described to be slightly reduced in bulk. On microscopic evaluation, the caudate showed severe neuronal loss and astrogliosis, mainly in the posterior regions. Considerable neuronal loss and astrocytic gliosis was also found in the putamen, albeit to a lesser degree than the caudate. Both segments of the pallidum were also gliotic. In the neocortex no "obvious nerve cell loss or gliosis" [23] was present. The white matter showed slight myelin pallor in the frontal, temporal, and occipital lobes. The substantia nigra was described as normal with a neuronal density at the lower limit of the control range [22]. Some extraneuronal pigment was noted, most likely related to aging.

2.3 Case 3

Recently, we described the clinical features, the neuroradiological findings, and the neuropathology of a patient with MLS [13, 15-17]. The clinical presentation was dominated by recurrent psychotic episodes, subsequent generalized chorea, and moderate cognitive decline. In addition, neurological examination showed absent deep tendon reflexes and moderate generalized muscular atrophy. The patient died, probably due to cardiac arrhythmia, at the age of 55 after a disease duration of 25 years. On gross examination, the external surface of the brain was normal; in particular no atrophy of the gyri was found (Fig. 1a). On coronal sections, a pronounced symmetric dilatation of the lateral ventricles was evident, especially of the frontal horns and central parts. The caudate nucleus and putamen were severely atrophic (Fig. 1b), and the globus pallidus was almost as severely

Fig. 1 Gross appearance (bars = 1cm). (a) External surface of the brain with no abnormalities (b) Coronal section showing enlargement of the lateral ventricles and atrophy of the basalganglia, in particular of the caudate nucleus (arrow)

reduced in size as the striatum. The substantia nigra and locus coeruleus were normally pigmented. Microscopic evaluation demonstrated an almost complete neuronal loss in the striatum. The remaining tissue showed a spongiform appearance with a marked reactive astrogliosis (Fig. 2a and 2b). Pronounced neuronal cell loss and astrogliosis were also found in the globus pallidus - albeit to a slightly lesser degree than in the striatum. No disease-defining intraneuronal or intranuclear inclusions were identified by routine histochemical and immunohis-tochemical staining. Brain areas without pathology included thalamus, subthalamic nucleus, cerebellum, midbrain, pons, and medulla. The substantia nigra as well as the locus coeruleus demonstrated a normal density of pigmented cells and no extracellular pigment was detected. In addition to the basal ganglia pathology, immunohistochemical staining with an antibody directed against glial fibrillary acidic protein revealed moderate focal subcortical white matter and subtle cortical astrogliosis, in particular in frontal areas (Fig. 3a and 3b).

Fig. 2 Microphotograph of the striatum. Severe striatal neuronal loss and astrogliosis (e.g., arrows) (a) Hematoxylin and eosin stain (bar = 100 |im), (b) Anti-glial fibrillary acidic protein immunohistochemistry (bar = 200 |im)

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Fig. 3 Microphotograph of the temporal lobe. (anti-glial fibrillary acidic protein immunohistochemistry, bars = 200 |lm). Moderate subcortical (a) and subtle cortical astrogliosis (b) (e.g., arrows)

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Fig. 3 Microphotograph of the temporal lobe. (anti-glial fibrillary acidic protein immunohistochemistry, bars = 200 |lm). Moderate subcortical (a) and subtle cortical astrogliosis (b) (e.g., arrows)

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