Conditions Template

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Pantothenate Kinase-Associated Neurodegeneration (PKAN), a form of Neurodegeneration. Neurodegeneration with Brain Iron Accumulation (NBIA) develops when iron accumulates in the brain resulting in nerve damage and other debilitating symptoms. PKAN is the most common form of NBIA and 30 to 50% of MBIA patients are diagnosed with PKAN.

Also referred to as:

  • Hallervorden-Spatz Syndrome
  • HARP
  • HSS
  • NBIA1
  • neurodegeneration with brain iron accumulation type 1
  • Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus

 

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Symptoms:

Symptoms include dystonia, dysarthria, rigidity, spasticity, hyperreflexia and extensor toe signs

 

Symptoms typically begin in childhood and are progressive, often resulting in death by early adulthood. Symptoms of PKAN begin before middle childhood, and most often are noticed before ten years of age. Symptoms include:

  • dystonia (repetitive uncontrollable muscle contractions that may cause jerking or twisting of certain muscle groups)
  • dysphagia & dysarthria due to muscle groups involved in speech being involved
  • rigidity/stiffness of limbs
  • tremor
  • writhing movements
  • dementia
  • spasticity
  • weakness
  • seizures (rare)
  • toe walking
  • retinitis pigmentosa, another degenerative disease that affects the individual’s retina, often causing alteration of retinal color and progressive deterioration of the retina at first causing night blindness and later resulting in a complete loss of vision
Affected Population:

PKAN affects one in 1 million people and is caused by genetic defects.

 

Genetics

PKAN is inherited and is called an autosomal recessive disorder.

 

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Contact these non-profit organizations to learn more about PKAN and NBIA disorders:

Dana Jones Foundation

ENACH

NBIA Cure

Spoonbill Foundation

Featured

View all

ENACH Announcement Video

NBIA Disorder Isabel Valle

PKAN Updates

  • Study suggests therapeutic solutions for pantothenate kinase-associated neurodegeneration 11 Jun 2019 05:27 News-Medical.net The scientific research team from the Universidad Pablo de Olavide led by doctor José Antonio Sánchez Alcázar has published a new study in the international magazines Molecular Neorubiology and Neural Regeneration Research. The study suggests therapeutic …
  • 'No more pain': Mum's touching tribute to 'beautiful boy' 05 Jun 2019 14:32 Sunshine Coast Daily "BUDDY, you won.” Miller O'Flynn is being remembered as a strong, courageous and beautiful boy after he lost his battle with an extremely rare disease last month. The Aroona boy was diagnosed with pantothenate kinase-associated neurodegeneration …
  • Retrophin, Inc. (RTRX) CEO Eric Dube on Q1 2019 Results - Earnings Call Transcript 08 May 2019 07:36 Seeking Alpha Retrophin, Inc. (NASDAQ:RTRX) Q1 2019 Earnings Conference Call May 7, 2019 4:30 PM ET Company Participants Chris Cline - Vice President, Investor Relations and Corporate Communications Eric Dube - President and Chief Executive Officer Noah Rosenberg - …
  • Hawke's Bay community in shock at loss of 'kind and generous' 22-year-old man 04 Apr 2019 06:37 The New Zeland Herald The Central Hawke's Bay community of Pōrangahau is in shock after the death of Hugh 'Hughie' Tully. The 22-year-old went missing on the night of April 1 and was found Tuesday by searchers in the water near the lighthouse at Parimahu. A rahui …
  • Hawke's Bay community in shock after 22-year-old man found dead in water 04 Apr 2019 03:29 Hawke's Bay Today The Central Hawke's Bay community of Pōrangahau is in shock after the death of Hugh 'Hughie' Tully. The 22-year-old went missing on the night of April 1 and was found by searchers in the water near the lighthouse at Parimahu. A rahui has been …
  • Retrophin, Inc. (RTRX) CEO Eric Dube on Q4 2018 Results - Earnings Call Transcript 27 Feb 2019 02:34 Seeking Alpha Retrophin, Inc. (NASDAQ:RTRX) Q4 2018 Earnings Conference Call February 26, 2019 4:30 PM ET Company Participants Chris Cline - VP, IR Eric Dube - CEO Dr. Noah Rosenberg - CMO Laura Clague - CFO Neil McFarlane - COO Dr. Bill Rote - SVP, R&D Conference …
  • Downtrend Call Working As Retrophin Inc Stock Falls 25.4% (RTRX) 22 Feb 2019 18:35 Tradingcharts.com Feb 22, 2019 (SmarTrend(R) Spotlight via COMTEX) -- SmarTrend identified a Downtrend for Retrophin Inc (NASDAQ:RTRX) on September 24th, 2018 at $27.82. In approximately 5 months, Retrophin Inc has returned 25.40% as of today's recent price of $20.75. …
  • Downtrend Call Working As Retrophin Inc Stock Falls 26.7% (RTRX) 29 Jan 2019 19:59 Tradingcharts.com Jan 29, 2019 (SmarTrend(R) Spotlight via COMTEX) -- SmarTrend identified a Downtrend for Retrophin Inc (NASDAQ:RTRX) on September 24th, 2018 at $27.82. In approximately 4 months, Retrophin Inc has returned 26.73% as of today's recent price of $20.38. …
  • BridgeBio Pharma Closes $299.2 Million Financing Round to Support Its Efforts to Target Genetic Disease at the Source 23 Jan 2019 14:38 PharmiWeb.com BridgeBio Pharma Posted on: 23 Jan 19 BridgeBio Pharma, a clinical-stage biopharmaceutical company focused on genetic diseases, today announced a new financing round of $299.2 million. The round was co-led by existing investors KKR and Viking Global …
  • Retrophin Inc Has Returned 20.2% Since SmarTrend Recommendation (RTRX) 22 Jan 2019 05:32 Tradingcharts.com Jan 22, 2019 (SmarTrend(R) Spotlight via COMTEX) -- SmarTrend identified a Downtrend for Retrophin Inc (NASDAQ:RTRX) on September 24th, 2018 at $27.82. In approximately 4 months, Retrophin Inc has returned 20.19% as of today's recent price of $22.20. …
  • PKAN: Probe the 5,000 missing  pages in  RCI report 14 Jan 2019 01:49 Daily Express PKAN: Probe the 5,000 missing  pages in  RCI report Published on: Monday, January 14, 2019 KOTA KINABALU: Parti Kerjasama Anak Negeri (Anak Negeri) has called for an investigation into claims that 5,000 pages of the report of the Royal Commission of …
  • No logic in RM10k smoking fine 11 Jan 2019 02:57 Daily Express No logic in RM10k smoking fine Published on: Friday, January 11, 2019 KOTA KINABALU: Parti Kerjasama Anak Negeri (PKAN) fully supports the smoking ban implemented by the government, but disagrees with the RM10,000 fine which it finds unreasonable. Deputy …
  • ASGCT Selects First-Ever Career Development Grant Group,... 08 Jan 2019 20:03 SF Gate The American Society of Gene and Cell Therapy’s (ASGCT) first class of 14 career development grant recipients were named by a selection committee made up of industry leaders identified by the ASGCT board of directors. In total, the Society will distribute …
  • Probe PAS for making false report: PKAN 08 Jan 2019 03:55 Daily Express Probe PAS for making false report: PKAN Published on: Tuesday, January 08, 2019 Kota Kinabalu: Parti Kerjasama Anak Negeri (Anak Negeri) wants police to investigate Parti Islam SeMalaysia (PAS) for lodging what they deemed to be a false police report. Anak …
  • Keep them out of government schools 29 Dec 2018 00:50 Daily Express Keep them out of government schools Published on: Saturday, December 29, 2018 Penampang: Penampang PKR Youth has raised concern about the Government's move to allow stateless children to enrol in schools beginning 2019, saying it will not only affect …
  • Retrophin, Inc. (RTRX) CEO Steve Aselage on Q3 2018 Results - Earnings Call Transcript 02 Nov 2018 01:34 Seeking Alpha Retrophin, Inc. (NASDAQ:RTRX) Q3 2018 Earnings Conference Call November 1, 2018 4:30 PM ET Executives Chris Cline - VP, IR Steve Aselage - CEO Neil McFarlane - COO Laura Clague - CFO Dr. Noah Rosenberg - CMO Dr. Bill Rote - SVP, R&D Analysts Joseph …
  • Miller almost on the move following fundraising success 28 Oct 2018 19:58 Sunshine Coast Daily THE family of Coast boy with a degenerative condition are closer than ever to being able to take him on adventures after a fundraising event at the weekend to help them buy a bigger car. Eight-year-old Aroona boy Miller O'Flynn was diagnosed with PKAN …
  • A one-in-a-million genetic mutation has robbed this boy of his childhood 23 Oct 2018 20:16 Radio Australia Updated October 24, 2018 07:04:41 He loves playing in the backyard, going to the beach and learning at school, but a one-in-a-million genetic mutation has now taken that away from this eight-year-old boy. Miller O'Flynn can no longer walk, talk or sit, …
  • Scientists develop new class of compounds for treatment of progressive neurodegenerative disorder 23 Oct 2018 10:46 News-Medical.net St. Jude Children's Research Hospital investigators have developed a new class of compounds that extended the lives and eased symptoms of mice with a progressive neurodegenerative human disorder. The findings appear today in the journal Nature …
  • Collaboration yields possible treatment for rare neurodegenerative disorder 23 Oct 2018 10:10 Medical Xpress Scientists in the St. Jude Children's Research Hospital departments of Infectious Diseases, Structural Biology and Chemical Biology and Therapeutics joined forces to discover a promising new class of compounds for treatment of PKAN, a progressive …

Where You Purchase Your Christmas Tree Could Save a Life 

PKAN Treatment Case Studies

Dominican Republic Patients on Compassionate Use Treatment

Cyprus Patient on Compassionate Use

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298713/

Learn more about the Fort Study here.

Related Terms:

Eye of the Tiger

MRI

Iron accumulation

NBIA Disorders

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