Non‐infantile neuronopathic Gaucher's disease

Winkelman, Marc D.; Banker, Betty Q.; Victor, Maurice; Moser, Hugo W.

doi:10.1212/wnl.33.8.994

Cited by 51 publications

(22 citation statements)

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“…Gaucher's disease is well known to cause slow horizontal saccades due to neuronal destruction of the paramedian pontine reticular formation (Winkelman et al 1983;Harris et al 1999). However, the slow horizontal saccade observed clinically has never been quantitatively measured.…”

Section: Discussionmentioning

confidence: 99%

“…Gaucher's disease has three major subtypes: Type I is a non-neuropathic form; type II is an acute infantile neuropathic form; and type III is a subacute, juvenile neuropathic form (Winkelman et al 1983). Slow horizontal saccade also termed as "ocular motor apraxia" a hallmark of types II and III has been reported as clinical observations (Harris et al 1999), but never studied as three-dimensional eye movements.…”

Section: Introductionmentioning

confidence: 99%

“…Slow horizontal saccade also termed as "ocular motor apraxia" a hallmark of types II and III has been reported as clinical observations (Harris et al 1999), but never studied as three-dimensional eye movements. Previously, vestibular testing of the lateral semicircular canal function showed reduced caloric response (Winkelman et al 1983) and absent vestibular response to yaw-axis rotation (Harris et al 1999). Measurements of vestibular and saccadic functions in GD may provide quantitative parameters that may be used to evaluate enzyme replacement therapy's efficacy in preventing further neurological degeneration.…”

Section: Introductionmentioning

confidence: 99%

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Vestibular and Saccadic Abnormalities in Gaucher’s Disease

et al. 2013

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Gaucher's disease (GD) is a hereditary lysosomal storage disease characterized by abnormal deposition of glucocerebroside due to the enzyme glucocerebrosidase deficiency, resulting in multi-organ pathology. GD type III has a progressive neurological involvement. We studied the vestibular and saccadic abnormalities in GD type III to determine if these parameters may be useful for assessing neurological involvement. We evaluated the vestibular and saccadic responses of two siblings with genetically identified GD type III on enzyme replacement therapy. Vestibular functions were assessed with the head impulse test (HIT), vestibular evoked myogenic potentials (VEMPs), and electrical vestibular stimulation (EVS). Saccadic functions were investigated with volitional horizontal and vertical saccades to AE20. Three-dimensional head and eye movements were recorded with dual-search coils and VEMP with surface electrodes. HIT showed impaired individual semicircular canal function with halved angular vestibuloocular reflex (VOR) gains and absent horizontal refixation saccade. Ocular and cervical VEMPs to air-conducted clicks were absent in the older sibling, and only cervical VEMP was present in the younger sibling indicating otolithic dysfunction. EVS showed prolonged onset latency and attenuated tonic and phasic responses suggesting impaired neural conduction and vestibular function. Horizontal saccadic velocity was miniscule (<30 /s) and multiple back-to-back saccades with saccade-vergence interaction were utilized to minimize eye position error in the older sibling. Vertical saccades were slightly abnormal, but vergence and smooth pursuit were normal in both siblings. Our findings suggest that GD affected the vestibular nuclei in addition to the paramedian pontine reticular formation. These vestibular and saccadic abnormalities may be useful biomarkers to monitor neurological deterioration.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Vestibular and Saccadic Abnormalities in Gaucher’s Disease

et al. 2013

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“…Although Gaucher cells were observed in the meninges, and in the adventitia of small and medium-sized vessels as perivascular aggregates [5,17,18,20], we are not aware of any case with an intra-dural cyst containing a fluid showing the same electrophoresis profile as the patient's serum. This electrophoresis similarity does not favour intra-thecal secretion.…”

Section: Discussionmentioning

confidence: 88%

“…Primary involvement of the central nervous system (CNS) in GD1 is unusual, and the association of epilepsy and parkinsonism has rarely been described [13,17,18,20].…”

Section: Discussionmentioning

confidence: 99%

Cauda equina syndrome due to an intra-dural sacral cyst in type-1 Gaucher disease

Hamlat

Saïkali

Lakéhal

et al. 2004

European Spine Journal

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IntroductionGaucher disease (GD) is an autosomal-recessive disorder caused by a deficiency of glucocerebrosidase [1,2] owing to mutations in the β glucocerebrosidase gene 1q21 [6].The most frequent type of GD (more than 99% of cases) is type 1 (GD1). Its clinical manifestations include anaemia, thrombocytopaenia, hepato-splenomegaly and skeletal lesions [1,2,3,4]. Absence of neurological involvement is a defining feature [1,2], although occasional cases of GD1 with neurological signs have been reported [7,8,13,16,17].We report a patient with GD1 and lumbo-sacral cauda equina syndrome due to an intra-thecal sacral cyst. Case report History and examinationTen years previously, a 65-year-old man was diagnosed as having type-1 GD. The diagnosis was confirmed biologically (see Table 1). The patient genotype is N 307 S / 1263 del 55. The first symptom was epilepsy, and he then successively experienced parkinsonism, hip and rib fractures, splenectomy, and in the 5 months prior to admission lower back pain.One month before admission, he developed confusion, episodic visual hallucinations, hyperthermia, and intractable back pain over the sacral region, the posterior surfaces of his thighs and leg weakness without sphincter incontinence. The neurological examination revealed severe dyskinaesia, sacral hyperaesthaesia and inability to stand up. Deep tendon reflexes in the lower extremities were absent. AbstractThe authors report a rare case of type-1 Gaucher disease with neurological and haematological involvement. The first onset was epilepsy, the diagnosis of GD1 was then confirmed and the patient experienced parkinsonism. The biological analysis revealed monoclonal gammapathy and factor-II mutation. The patient's condition worsened due to cauda equina syndrome. Magnetic resonance imaging and surgery revealed an intra-thecal sacral cyst which, to our knowledge, has not been reported previously; therefore, when confronted with the fractures commonly observed in GD1, other unusual causes of spinal cord and root compression should not be overlooked.

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