Abstract
Background: Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation: We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene. Conclusions: We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.
| Original language | English |
|---|---|
| Article number | 155 |
| Journal | Italian Journal of Pediatrics |
| Volume | 45 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Dec 3 2019 |
Keywords
- Cerebellar atrophy
- Hereditary spastic paraplegia
- KIF1A
- SPG30
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant : A case report. / Spagnoli, Carlotta; Rizzi, Susanna; Salerno, Grazia Gabriella; Frattini, Daniele; Fusco, Carlo.
In: Italian Journal of Pediatrics, Vol. 45, No. 1, 155, 03.12.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant
T2 - A case report
AU - Spagnoli, Carlotta
AU - Rizzi, Susanna
AU - Salerno, Grazia Gabriella
AU - Frattini, Daniele
AU - Fusco, Carlo
PY - 2019/12/3
Y1 - 2019/12/3
N2 - Background: Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation: We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene. Conclusions: We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.
AB - Background: Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation: We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene. Conclusions: We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.
KW - Cerebellar atrophy
KW - Hereditary spastic paraplegia
KW - KIF1A
KW - SPG30
UR - http://www.scopus.com/inward/record.url?scp=85076091903&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85076091903&partnerID=8YFLogxK
U2 - 10.1186/s13052-019-0752-5
DO - 10.1186/s13052-019-0752-5
M3 - Article
C2 - 31796088
AN - SCOPUS:85076091903
VL - 45
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 1
M1 - 155
ER -