Are there neurological symptoms in the type 1of Gaucher disease?

mohammad reza alai, Narjes Jafari




Gaucher disease is the most common of the inborn error of metabolic disorder that  known as lipid storage disorders. This disorder  is caused by a deficiency of the enzyme glucocerebrosidase. .There for , glucocerebroside accumulate in multiple organs. Symptoms may begin at any age ( in early life until the adulthood )and include skeletal disorders, organomegally , and cytopenia. Gaucher disease is classified into three types. type 1 is the most common form and named non neuropatic form . Type 2 is named acute infantile neuropathic form,because  severe neurological symptoms  are apparent by 3 months of age. Type 3  is named chronic neuropathic form. Videlicet,this disorder  is classified on the presence or absence of neurological symptoms .

Material and methods

In this study , We assesed neurological symptoms in  our GD1patients and compared them with  GD3 patients.

 Three patients with GD3 and eight patients with GD1 entered in this study.


We found in this study that patients with GD1  had  neurological  problems  including: Cognitive impairment,developmental disability ,behavioral disorder, microcephaly ,increased DTR,too.

Though,some symptoms including :seizure,supranuclear gaze palsy, cerebellar sign and ataxia only excist in GD3 patients .


In previous studies has  mentioned  that distinction between type 1 and 3 is by  neurological symptoms  but we found  some neurological signs  are seen in Type 1,too. Although, the neurological symptoms are  most severe in type 3 and some symtoms only detected in GD3 . So,  generally neurological symptoms alone can not  differentiate the types of gauche disease.


neurological symptom, gauche type 1, gauche type 3, glucocerebroside

Full Text:




-Silvia Linari ,Giancarlo Castaman ,Clinical manifestations and management of Gaucher disease, Clin Cases Miner Bone Metab,. 2015 May-Aug; 12(2): 157–164, Published online 2015 Oct 26. doi: 10.11138/ccmbm/2015.12.2.157 ,PMCID: PMC4625773

-, Ni-Chung Lee, Siew-Lee Wong, Yin-Hsiu Chien, Jiunn-Ming Sheen, Fuu-Jen Tsai, Shinn-Forng Peng, Outcome of early-treated type III Gaucher disease patientsBlood Cells, Molecules and Diseases journal homepage:

- C. Scriver, A. Beaudet, W. Sly, D. Valle , , E. Beutler, G. Grabowski ,The Metabolic and Molecular Bases of Inherited Diseases Gaucher disease McGraw-Hill, New York (1995), pp. 2641–2670

- N.J. Weinreb, J. Charrow, H.C. Andersson, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry Am. J. Med., 113 (2002), pp. 112–119

Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: demographics

and disease characteristics of 1698 patients with Gaucher

disease. Arch Internal Med. 2000;160:1754-1760.

Mistry PK, Sirrs S, Chan A, et al. Pulmonary hypertension in type 1

Gaucher’s disease: genetic and epigenetic determinants of phenotype

and response to therapy. Mol Genet Metab. 2002; 77:91-98.

Beutler E, Grabowsky GA. Gaucher Disease. In: The Metabolic and Molecular

Bases of Inherited Disease, 2001 Vol II (Ed. By Scriver CR, Sly

WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B): 3635-

McGraw-Hill Inc., Columbus, USA.

- Annalisa Sechi , , Laura Deroma, Andrea Dardis, Giovanni Ciana, Nicole Bertin, Daniela Concolino, Silvia Linari, Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients, Molecular Genetics and Metabolism 113 (2014) 213–218

-J Neurol. Strupp M, Kremmyda O, Adamczyk C, Böttcher N, Muth C, Yip CW, Bremova T Central ocular motor disorders, including gaze palsy and nystagmus 2014 Sep;261 Suppl 2:S542-58. doi: 10.1007/s00415-014-7385-9.

- B. Ukley , A. Bachhuber , W. Hermann, Zerebelläres Syndrom bei Morbus Gaucher, Der Nervenarzt ,Briefe An Die Herausgeber, October 2009, 80:1216 ,First online: 11 July 2009

- Mary L. Zupanc ,Progressive myoclonic epilepsy,The Cerebellum ,Scientific Papers ,December 2004, Volume 3, Issue 3, pp 156-171

-Alisdair McNeill, Raquel Duran, Christos Proukakis, Jose Bras, Derralyn Hughes, Atuhl Mehta, Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Movement Disorder. PMC 2014 Oct 7. 2012 Apr; 27(4): 526–532. Published online 2012 Feb 16. doi: 10.1002/mds.24945

-Silvia Linari,Giancarlo Castaman,Clinical manifestations and management

of Gaucher disease Clin Cases Miner Bone Metab. 2015 May-Aug; 12(2): 157–164. Published online 2015 Oct 26. doi: 10.11138/ccmbm/2015.12.2.157



  • There are currently no refbacks.

Copyright (c) 2018 Iranian Journal of Child Neurology