Mast Syndrome Outside the Amish Community: SPG21 in Europe

Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported. Herein, we describ...

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Veröffentlicht in:Frontiers in neurology Jg. 12; S. 799953
Hauptverfasser: Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Switzerland Frontiers Media S.A 17.01.2022
Schlagworte:
hereditary spastic paraplegia
HSP
MAST syndrome
Neurology
rare diseases
SPG21
rare diseases
MAST syndrome
HSP
hereditary spastic paraplegia
SPG21
ISSN:1664-2295, 1664-2295
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Zusammenfassung:Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported. Herein, we describe five subjects from the first three families of German and Austrian descent. Five subjects with complicated HSP were referred to our centers. The workup consisted of neurological examination, neurophysiological and neuropsychological assessments, MRI, and genetic testing. Onset varied from child- to adulthood. All patients exhibited predominant spastic para- or tetraparesis with positive pyramidal signs, pronounced cognitive impairment, ataxia, and extrapyramidal signs. Neurophysiological workup showed abnormal motor and sensory evoked potentials in all the patients. Sensorimotor axonal neuropathy was present in one patient. Imaging exhibited thin corpus callosum and global brain atrophy. Genetic testing revealed one heterozygous compound and two homozygous mutations in the gene. Herein, we report the first three Austrian and two German patients with , presenting a detailed description of their clinical phenotype and disease course. Our report adds to the knowledge of this extremely rare disorder, and highlights that must also be considered in the differential diagnosis of complicated HSP outside the Amish community.
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This article was submitted to Movement Disorders, a section of the journal Frontiers in Neurology
Reviewed by: Gerald Pfeffer, University of Calgary, Canada; Malco Rossi, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Argentina
Edited by: Steven Frucht, NYU Grossman School of Medicine, United States
ISSN:1664-2295
1664-2295
DOI:10.3389/fneur.2021.799953