Abstract
Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is characterized by a relatively stable intellectual disability and a hypo-bradykinetic and hypertonic syndrome with juvenile onset. Genetic investigations and T1 and T2-weighted MR images align with what is described in literature. The patient was also subjected to PET with 18-FDG investigation and DaT-Scan study. In reporting relevant clinical data, we want to emphasize the fact that the patient received a chelation therapy with deferiprone (treatment already used in other forms of NBIA with encouraging results), which, however, had to be interrupted because the parkinsonian symptoms worsened. Conversely, the patient has benefited from nondrug therapies and, in particular, from an adapted motor activity with assisted pedaling (method in the process of validation in treatments of parkinsonian syndromes), which started before the treatment with deferiprone and still continues.
| Original language | English |
|---|---|
| Article number | 385 |
| Journal | Frontiers in Neurology |
| Volume | 8 |
| Issue number | AUG |
| DOIs | |
| Publication status | Published - Aug 21 2017 |
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Keywords
- Basal ganglia
- Beta-propeller protein-associated neurodegeneration
- Iron
- Iron-chelating agents
- NBIA disorders
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Patient affected by beta-propeller protein-associated neurodegeneration : A therapeutic attempt with iron vhelation therapy. / Fonderico, Mattia; Laudisi, Michele; Andreasi, Nico Golfrè; Bigoni, Stefania; Lamperti, Costanza; Panteghini, Celeste; Garavaglia, Barbara; Carecchio, Miryam; Emanuele, Elia Antonio; Forni, Gian L.; Granieri, Enrico.
In: Frontiers in Neurology, Vol. 8, No. AUG, 385, 21.08.2017.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Patient affected by beta-propeller protein-associated neurodegeneration
T2 - A therapeutic attempt with iron vhelation therapy
AU - Fonderico, Mattia
AU - Laudisi, Michele
AU - Andreasi, Nico Golfrè
AU - Bigoni, Stefania
AU - Lamperti, Costanza
AU - Panteghini, Celeste
AU - Garavaglia, Barbara
AU - Carecchio, Miryam
AU - Emanuele, Elia Antonio
AU - Forni, Gian L.
AU - Granieri, Enrico
PY - 2017/8/21
Y1 - 2017/8/21
N2 - Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is characterized by a relatively stable intellectual disability and a hypo-bradykinetic and hypertonic syndrome with juvenile onset. Genetic investigations and T1 and T2-weighted MR images align with what is described in literature. The patient was also subjected to PET with 18-FDG investigation and DaT-Scan study. In reporting relevant clinical data, we want to emphasize the fact that the patient received a chelation therapy with deferiprone (treatment already used in other forms of NBIA with encouraging results), which, however, had to be interrupted because the parkinsonian symptoms worsened. Conversely, the patient has benefited from nondrug therapies and, in particular, from an adapted motor activity with assisted pedaling (method in the process of validation in treatments of parkinsonian syndromes), which started before the treatment with deferiprone and still continues.
AB - Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is characterized by a relatively stable intellectual disability and a hypo-bradykinetic and hypertonic syndrome with juvenile onset. Genetic investigations and T1 and T2-weighted MR images align with what is described in literature. The patient was also subjected to PET with 18-FDG investigation and DaT-Scan study. In reporting relevant clinical data, we want to emphasize the fact that the patient received a chelation therapy with deferiprone (treatment already used in other forms of NBIA with encouraging results), which, however, had to be interrupted because the parkinsonian symptoms worsened. Conversely, the patient has benefited from nondrug therapies and, in particular, from an adapted motor activity with assisted pedaling (method in the process of validation in treatments of parkinsonian syndromes), which started before the treatment with deferiprone and still continues.
KW - Basal ganglia
KW - Beta-propeller protein-associated neurodegeneration
KW - Iron
KW - Iron-chelating agents
KW - NBIA disorders
UR - http://www.scopus.com/inward/record.url?scp=85028429619&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85028429619&partnerID=8YFLogxK
U2 - 10.3389/fneur.2017.00385
DO - 10.3389/fneur.2017.00385
M3 - Article
AN - SCOPUS:85028429619
VL - 8
JO - Frontiers in Neurology
JF - Frontiers in Neurology
SN - 1664-2295
IS - AUG
M1 - 385
ER -