Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy

Tantawy, Azza Abdel Gawad; Adly, Amira Abdel Moneam; Salah, Nouran Yousef; Abdeen, Mai SeifElDin

doi:10.1016/j.jpsychores.2019.04.014

Cited by 5 publications

(14 citation statements)

References 30 publications

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“…Group 1 comprised 11 AYAs with GD (22.9%) with a median UPDRS (Motor) of 7 (range 3-13) and a median UPDRS (ADL) of 5 (range [3][4][5][6][7][8][9][10][11][12][13][14]. The most noted PFs were bradykinesia in eight AYAs with GD (72.7%), rigidity in four (36.4%), and resting tremors in three (27.3%).…”

Section: Resultsmentioning

confidence: 99%

“…Its manifestations can range from severe, lethal disease diagnosed before or shortly after birth to completely asymptomatic cases. 4 Various ocular manifestations have been reported sporadically in almost all forms of GD, including a wide spectrum of retinal abnormalities, such as pigmented retinal lesions, intraretinal white dots, and inner retinal Gaucher cells. 21 Neuronal damage in GD is thought to be mediated by impaired degradation and disposal of endogenously synthesized neurotoxic glucosylceramide and Lyso-GL-1.…”

Section: Discussionmentioning

confidence: 99%

“…The most prevalent is type 1 (GD1), which is not associated with neurodegenerative disease; GD2 and GD3 are characterized by fulminant or chronic neurodegenerative disease, respectively. 4 However, parkinsonism has been reported in both GD1 and GD3. 3 Patients with parkinsonism experience a group of clinical prodromal symptoms of early neurodegeneration, such as hyposmia, cognitive impairment, hallucinations, depression, sleep disorders, and autonomic dysfunction before onset of clinically manifest parkinsonism.…”

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Ganglion Cell Complex Thinning in Young Gaucher Patients: Relation to Prodromal Parkinsonian Markers

et al. 2020

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A BS TRACT: Background: Patients with Gaucher disease (GD) have an increased risk for parkinsonism. Retinal thinning has been described in parkinsonism as an early nonmotor feature. Scarce reports have addressed retinal thickness changes in GD. Objectives: The objectives of this study were to compare ganglion cell complex (GCC) thickness in adolescents and young adults (AYAs) with GD with healthy control subjects, and to correlate it with the presence of parkinsonian features (PFs), clinical prodromal markers of parkinsonism, severity score index (SSI), and glucosylsphingosine (Lyso-GL-1). Methods: This study included 48 AYAs with GD (11-29 years), 11 with manifest PFs (Group 1) and 37 with no PFs (Group 2), and 48 matched healthy control subjects (Group 3). Age of GD onset, disease duration, medication history, history of constipation, SSI, and hematological assessment were done. Neurocognitive evaluation included Parts I, II, and III of the Unified Parkinson's Disease Rating Scale (UPDRS), Wechsler Adult and Intelligence Scale and Wechsler Intelligence Scale for Children, Beck Depression Inventory (BDI), rapid eye movement sleep behavior disorder (RBD) scale, Munich Parasomnia Screening scale, and the olfactory dysfunction scale. Molecular analyses of the acid GBA gene and Lyso-GL-1 were done. Participants underwent full ophthalmological examination and optical coherence tomography with GCC thickness measurement. Results: GCC was significantly thinner in Group 1 than in Groups 2 and 3 (P < 0.001), whereas no significant difference was found between Groups 2 and 3 (P = 0.977). In addition, a significant interocular GCC thickness difference was found among the studied AYAs with GD (P = 0.007). GCC correlated positively with total intelligence quotient (P < 0.001) and negatively with Lyso-GL-1 (P = 0.019), UPDRS (P = 0.004), and BDI (P = 0.029), but not with SSI (P = 0.874), GD type (P = 0.85), or genotype (P = 0.842). A significant negative relationship was found between GCC thickness and PFs (P = 0.001), parasomnia (P = 0.003), constipation (P = 0.031), RBD (P = 0.044), and hyposmia (P = 0.033). Conclusions: GCC thinning may be a promising biomarker for central nervous system neurodegeneration that has the potential to monitor early PFs among people with GD.

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confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Ganglion Cell Complex Thinning in Young Gaucher Patients: Relation to Prodromal Parkinsonian Markers

et al. 2020

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“…For instance, depression is one of the most common psychiatric disorders in both GD and Tay‐Sachs patients, ranging from mild to severe depression, including suicidality. Generalized anxiety disorder is the second most common psychiatric disorder in GD, found in ~15% of Egyptian patients 16 …”

Section: Mood Disordersmentioning

confidence: 99%

“…Cognitive impairment 1 Paranoia, obsessive thinking and compulsiveness, 16,17 depression 17 Poor sleep efficiency and short sleep latency 14 Urinary and fecal incontinence, constipation, 14 abnormal sympathetic skin response, 15 dysphagia 14 Niemann-Pick disease Dementia 18 Visual and auditory hallucinations and delusions, 19 depression 20 Poor sleep efficiency and short sleep latency 21 Dysphagia 22 Olfactory deficits 23 MPS fibers. 5 Olfactory disturbances have been reported in patients with GD and Niemann-Pick type C (see Table 1).…”

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The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders

et al. 2020

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Homozygous mutations in GBA1 cause the most common lysosomal storage disease (LSD), namely, Gaucher disease (GD). Mutations (homozygous or heterozygous) in GBA1 are also the highest genetic risk factor for Parkinson's disease (PD), 1 although the mechanistic basis for this relationship is not known. We now suggest, based on well-documented data in some cases and on more anecdotal data in others, that there is a resemblance in some nonmotor symptoms (NMSs) between PD and LSDs. This may indicate that brain regions associated with NMSs are more vulnerable to changes in lysosomal activity and α-synuclein deposition as a result of lysosomal dysfunction. NMSs in PD patients with an LSD mutation have been mainly examined clinically in individuals heterozygous for GBA1 mutations rather than in mutations for other genes that cause an LSD, as the latter have only been recently identified as risk factors for PD. 2 It is important to distinguish between LSD carriers and patients in terms of PD-related NMSs because LSD carriers do not display overt LSD symptoms, although LSD carriers do affect susceptibility toward the development of neurological diseases such as PD. 1 Indeed, a recent study on Niemann-Pick (NPC1) carriers suggested heterozygosity is a high risk factor for late-onset neurodegeneration. 3 The significant overlap in NMSs between PD and LSDs (documented with appropriate references in Table 1) suggests that NMSs may be the cause of at least 1 common trait between these apparently disparate diseases. LSDs are rare, and patients often succumb at a young age. Nevertheless, reports of NMSs in late-onset or chronic forms of LSDs suggest a similarity between the presentation of NMSs in LSDs and PD. For the purpose of this literature review, we chose the most prominent NMSs, namely, olfactory disorders, sleep disorders, mood disorders, psychosis, dysautonomia, and cognitive impairment. We excluded cognitive impairment and mental retardation in LSDs, as these are not symptoms in PD patients. We performed a literature search using the National Library of Medicine database (PubMed). However, it should be noted that the terminology used to describe NMSs in LSDs is often rather vague; thus, direct comparison with NMSs in PD is difficult and requires careful analysis of the described symptoms. Moreover, because LSDs are rare, large clinical studies for many of them are not available or are limited to a small number of patients. The presence of NMSs such as olfactory or autonomic dysfunction may be overlooked because they are usually not the main symptom. Thus, for LSD patients, we focus mainly, but not exclusively, on GD and GM2 gangliosidosis, as these 2 are the best studied with regard to NMSs.

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Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion

El-Beshlawy,

Tantawy,

Shawky

et al. 2024

Egypt J Med Hum Genet

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Background Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), type 2 (infantile form, with acute early neurologic manifestation), and type 3 (subacute/chronic neuropathic form). The rarity of the disease and its overlapping symptoms with other diseases increase the delay in diagnosis. The Egyptian cohort of patients with GD is specifically different regarding the prevalence of type 3 as well as the severity and progression of the disease. The unavailability of precise diagnostic tests and lack of awareness among clinicians are the current challenges associated with diagnosing and managing GD in Egypt. Method An expert panel meeting was convened with 19 experts from Egypt to address the current unmet challenges in the diagnosis and management of GD from the region and to develop country-specific diagnostic algorithms based on the existing literature for pediatric and adult groups. In addition, management strategies and preventive measures were also discussed. Result The algorithms presented in this review can be implemented in clinical practice for the timely diagnosis of patients with GD in Egypt. Early diagnosis is crucial in selecting the best treatment for patients with GD, and evidence suggests that early initiation of therapy can result in better outcomes. Conclusion The evidence-based expert opinion presented in this review will help clinicians in the early initial diagnosis of GD in Egypt, leading to appropriate management of the disease.

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Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy

Cited by 5 publications

References 30 publications

Ganglion Cell Complex Thinning in Young Gaucher Patients: Relation to Prodromal Parkinsonian Markers

Ganglion Cell Complex Thinning in Young Gaucher Patients: Relation to Prodromal Parkinsonian Markers

The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders

Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion

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