ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

S. T. de Bot; J. H. Veldink; S. Vermeer; A. R. Mensenkamp; F. Brugman; H. Scheffer; L. H. van den Berg; H. P. H. Kremer; E. J. Kamsteeg; B. P. van de Warrenburg

doi:10.1007/s00415-012-6723-z

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

S. T. de Bot^*, J. H. Veldink, S. Vermeer, A. R. Mensenkamp, F. Brugman, H. Scheffer, L. H. van den Berg, H. P. H. Kremer, E. J. Kamsteeg, B. P. van de Warrenburg

^*Corresponding author for this work

Molecular Neuroscience and Ageing Research (MOLAR)

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Abstract

SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

Original language	English
Pages (from-to)	869-875
Number of pages	7
Journal	Journal of Neurology
Volume	260
Issue number	3
DOIs	https://doi.org/10.1007/s00415-012-6723-z
Publication status	Published - Mar-2013

Keywords

Hereditary Spastic Paraplegia
ATL1
REEP1
Sporadic
Upper motor neuron disease
Genetic screening
DOMINANT SPASTIC PARAPLEGIA
LATERAL-SCLEROSIS
ONSET
ATLASTIN
SPECTRUM
FREQUENT
SPG3A

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@article{37f9ca4618714fa193254aad8c80a7d8,

title = "ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes",

abstract = "SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.",

keywords = "Hereditary Spastic Paraplegia, ATL1, REEP1, Sporadic, Upper motor neuron disease, Genetic screening, DOMINANT SPASTIC PARAPLEGIA, LATERAL-SCLEROSIS, ONSET, ATLASTIN, SPECTRUM, FREQUENT, SPG3A",

author = "{de Bot}, {S. T.} and Veldink, {J. H.} and S. Vermeer and Mensenkamp, {A. R.} and F. Brugman and H. Scheffer and {van den Berg}, {L. H.} and Kremer, {H. P. H.} and Kamsteeg, {E. J.} and {van de Warrenburg}, {B. P.}",

year = "2013",

month = mar,

doi = "10.1007/s00415-012-6723-z",

language = "English",

volume = "260",

pages = "869--875",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "SPRINGER HEIDELBERG",

number = "3",

}

TY - JOUR

T1 - ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

AU - de Bot, S. T.

AU - Veldink, J. H.

AU - Vermeer, S.

AU - Mensenkamp, A. R.

AU - Brugman, F.

AU - Scheffer, H.

AU - van den Berg, L. H.

AU - Kremer, H. P. H.

AU - Kamsteeg, E. J.

AU - van de Warrenburg, B. P.

PY - 2013/3

Y1 - 2013/3

N2 - SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

AB - SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

KW - Hereditary Spastic Paraplegia

KW - ATL1

KW - REEP1

KW - Sporadic

KW - Upper motor neuron disease

KW - Genetic screening

KW - DOMINANT SPASTIC PARAPLEGIA

KW - LATERAL-SCLEROSIS

KW - ONSET

KW - ATLASTIN

KW - SPECTRUM

KW - FREQUENT

KW - SPG3A

U2 - 10.1007/s00415-012-6723-z

DO - 10.1007/s00415-012-6723-z

M3 - Article

SN - 0340-5354

VL - 260

SP - 869

EP - 875

JO - Journal of Neurology

JF - Journal of Neurology

IS - 3

ER -