Author response for "The &lt;i&gt;GBA&lt;/i&gt; p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies"

Ruskey, J.A.; Zhou, Shuyao; Santiago, Raoul; Franche, L.-A.; Alam, Ahm Khurshid; Roncière, Léanne; Spiegelman, Dan; Fon, Edward A.; Trempe, Jean François; Kalia, Lorraine V.; Postuma, Ron; Dupré, Nicolas; Rivard, Georges‐Étienne; Assouline, Sarit; Amato, David A.; Gan‐Or, Ziv

doi:10.1111/cge.13405/v2/response1

Cited by 1 publication

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“…However, results have not been consistent, with some suggesting that PD patients with or without a GBA1 mutation are clinically and cognitively heterogeneous [ 20 ], though some studies were limited by the number of available patients and the kind of mutations examined. Numerous other studies have attempted to address both the genetic and mechanistic relationship between GBA1 and PD (see, for instance, [ 21 , 22 , 23 , 24 , 25 , 26 ]).…”

Section: Associations Between Lsds and Pdmentioning

confidence: 99%

Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease

Blumenreich

Barav

Jenkins

et al. 2020

IJMS

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The lysosome is a central player in the cell, acting as a clearing house for macromolecular degradation, but also plays a critical role in a variety of additional metabolic and regulatory processes. The lysosome has recently attracted the attention of neurobiologists and neurologists since a number of neurological diseases involve a lysosomal component. Among these is Parkinson’s disease (PD). While heterozygous and homozygous mutations in GBA1 are the highest genetic risk factor for PD, studies performed over the past decade have suggested that lysosomal loss of function is likely involved in PD pathology, since a significant percent of PD patients have a mutation in one or more genes that cause a lysosomal storage disease (LSD). Although the mechanistic connection between the lysosome and PD remains somewhat enigmatic, significant evidence is accumulating that lysosomal dysfunction plays a central role in PD pathophysiology. Thus, lysosomal dysfunction, resulting from mutations in lysosomal genes, may enhance the accumulation of α-synuclein in the brain, which may result in the earlier development of PD.

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