Classical Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Welcome to the PKAN Road Map

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 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.



PKAN is inherited and is called an autosomal recessive disorder.


Prenatal Testing:

If the disease-causing mutations have been identified in the family, prenatal diagnosis for pregnancies can be done by analyzing DNA extracted from fetal cells in amniocentesis or chorionic villus sampling.

PKAN is suspected when magnetic resonance imaging (MRI) changes are seen in an individual with symptoms typically seen in this disease.

All individuals with PKAN have high levels of brain iron, mainly in the globus pallidus. PKAN has a unique characteristic seen on an MRI. Iron accumulation generally makes the brain look dark on certain (T2-weighted) MRI views. In PKAN, this dark area has a very bright spot in the center, called the ‘eye of the tiger sign. It is rarely seen in other forms of NBIA.

The sign sometimes is absent in the early stages of disease. In the Dominican Republic, where 21 affected individuals have been diagnosed with PKAN and have the same PANK2 mutation, it has been reported that six individuals lacked the ‘eye of the tiger sign’ despite their similarities to others in this group.

Some cases with a purported ‘eye of the tiger’ sign will be found to have Mitochondrial-membrane Protein-Associated Neurodegeneration or MPAN, a different form of NBIA that can look similar to PKAN when comparing scans.

Another hallmark feature is the presence of a movement disorder, including one or more of the following: dystonia, rigidity or choreoanthetosis (twisting and writhing). Other common features include corticospinal tract involvement which is responsible for conducting impulses from the brain to the spinal cord, extensor toe signs that indicate damage to the central nervous system and spasticity, along with retinal degeneration or optic atrophy. Seizures are rare.

MRI scans may reveal the eye of the tiger sign, an abnormal low T2 signal (due to abnormal accumulation of iron) in the globus pallidus.

Symptomatic Treatment:

  • Benztropine for rigidity and tremor
  • Dopamine
  • Baclofen for spasm relief and reduced dystonia
  • Chelating agents for excess iron removal


  • Speech therapy


  • Gastrostomy feeding tube placement for advanced dysphagia

PKAN Treatment Updates


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

Dana Jones Foundation



Spoonbill Foundation


View all

New publication BRAINCURE for PKAN by Prof. Sánchez Alcázar … Precision medicine in PKAN …

ENACH Announcement Video

NBIA Disorder Isabel Valle

PKAN Updates

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  • PureK To Acquire BudaPets All-Natural Pet Wellness Brand 11 Jan 2021 17:50 Benzinga PureK Holdings Corp‎. (TSXV:PKAN) plans to acquire the BudaPets brand. The Vancouver company will purchase Nirvana Group LLC, a Florida-based producer and distributor of all-natural pet wellness products.  Under the deal, PureK agreed to issue $1.5 million …
  • Jeff Yauck Announces Filing of Early Warning Report Related to Disposition of Common Shares of PureK Holdings Corp. 31 Dec 2020 23:29 VANCOUVER, British Columbia, Dec. 31, 2020 (GLOBE NEWSWIRE) -- On December 29, 2020, Jeff Yauck (the "Acquiror"), with an address care of PureK Holdings Corp. located at ‎6710 N Scottsdale Road‎, Paradise Valley, Arizona, 85253‎ United States, …
  • Uptrend Call Working As Retrophin Inc Stock Rises 17.7% (RTRX) 23 Nov 2020 19:22 Nov 23, 2020 (SmarTrend(R) Spotlight via COMTEX) -- SmarTrend identified an Uptrend for Retrophin Inc (NASDAQ:RTRX) on October 8th, 2020 at $20.95. In approximately 2 months, Retrophin Inc has returned 17.71% as of today's recent price of $24.66. Over …
  • Mitochondria control cells using their own complete fatty acid synthesis machine 31 Aug 2020 11:49 It shouldn't be any secret that mitochondria can make their own fatty acids. The enzymes mitochondria use to do it were discovered decades ago. Unfortunately, only a few individuals among the biologically literate masses have come to appreciate this …
  • 45.2% Return Seen to Date on SmarTrend Retrophin Inc Call (RTRX) 17 Jul 2020 20:07 Jul 17, 2020 (SmarTrend(R) Spotlight via COMTEX) -- SmarTrend identified an Uptrend for Retrophin Inc (NASDAQ:RTRX) on March 26th, 2020 at $14.13. In approximately 4 months, Retrophin Inc has returned 45.20% as of today's recent price of $20.51. In the …
  • Life-saving medicine finally arrives for Morgan County girl 08 Feb 2020 01:10 WTHR MORGAN COUNTY, Ind. (WTHR) - Nick Cragen and his little girl Amelia are waiting for a small package to arrive that promises to have a huge impact on their lives. “Heaven in a box,” Nick called it, the promised cure for a rare disease that is killing his …
  • God-powered fight against PKAN 06 Feb 2020 02:58 McClusky Gazette - North Dakota By ALLAN TINKER The Kulsrud boys and their parents, grandparents and friends have been following the positive battle the family has made against the neurological condition that has challenged the family. Laura Kulsrud offered their story for us this week. …
  • 5 Beaten-Down Biotech Stocks Set To Rebound In 2020 18 Dec 2019 14:46 The Zacks Medical-Biomedical and Genetics industry is up 8.6% this year so far compared with the S&P 500’s increase of 26.1%. The industry includes large as well as small biotech companies, which are much riskier investment bets than drug companies …
  • Retrophin: Thesis Falls Back To Sparsentan 15 Oct 2019 04:06 Seeking Alpha 2019 was not kind to Retrophin (RTRX). The company made little progress on the commercial front, though it got the new version of Thiola approved by the FDA, and that’s about it on the good news front. On the negative side, the company decided to pass on …
  • Daron Jessop 12 Oct 2019 10:56 St. George News - Utah March 9, 2008 – October 9, 2019 Our beautiful son, Daron Jessop, age 11, passed away in his mother’s arms on October 9, 2019 after a long and courageous battle with PKAN. Daron was born on March 9, 2008 in St. George, Utah, to Noreen Zitting Jessop and …
  • Yayasan Sabah conducts furniture making course 09 Oct 2019 01:44 Borneo Post Loretto with participants of the furniture making course. KENINGAU: Yayasan Sabah Group through Pusat Kraftangan Sabah (PKS) collaborated with Wood Industry Skills Development Centre (WISDEC) under the Malaysian Timber Industry Board of the Ministry of …
  • Shares of RTRX Down 34.9% Since Downtrend Call on Shares 03 Sep 2019 06:01 Sep 03, 2019 (SmarTrend(R) Spotlight via COMTEX) -- SmarTrend identified a Downtrend for Retrophin Inc (NASDAQ:RTRX) on August 2nd, 2019 at $19.35. In approximately 1 month, Retrophin Inc has returned 34.94% as of today's recent price of $12.59. In the …
  • Retrophin's phase 3 FORT study of fosmetpantotenate in patients with PKAN fails to meet primary endpoint 24 Aug 2019 09:23 Retrophin Inc, a biopharmaceutical company specializing in identifying, developing and delivering life-changing therapies to people living with rare disease, announced that the phase 3 FORT study evaluating the safety and efficacy of fosmetpantotenate …
  • Retrophin Down On Neurological Disorder Drug Study Failure 23 Aug 2019 12:26 Shares of Retrophin, Inc. (NASDAQ:RTRX) lost 22% after it announced the failure of its late-stage study evaluating fosmetpantotenate in patients with pantothenate kinase-associated neurodegeneration (PKAN), a rare genetic neurological disorder. Notably, …
  • ALXN & Takeover Rumors, AMGN's JASMINE Blooms, CLSD Sees The Writing On The Wall 23 Aug 2019 07:13 RTTNews Today's Daily Dose brings you news about takeover rumors surrounding Alexion Pharma; positive results of Amgen/Allergan's JASMINE study; and an update on Clearside Biomedical's New Drug Application for XIPERE. Read on… Alexion …
  • Can This Neurodegeneration Study Find a Way Forward? 22 Aug 2019 17:41 24/7 Wall St By Chris Lange August 22, 2019 1:30 pm EDT Retrophin Inc. (NASDAQ: RTRX) shares hit a multiyear low after the firm announced late-stage results from its study in patients with pantothenate kinase-associated neurodegeneration (PKAN). Specifically, this is …
  • Retrophin’s Stock Tumbles After Miss in Late-Stage Clinical Trial 22 Aug 2019 16:34 San Diego Business Journal - California Shares of Retrophin fell 27% after its rare disease drug candidate failed to work better than a placebo in a late-stage clinical study. Retrophin’s drug for pantothenate kinase-associated neurodegeneration, or PKAN – a genetic and life-threatening …
  • Retrophin scraps nervous system disorder study, shares dive 22 Aug 2019 15:33 Reuters (Reuters) - Retrophin Inc said on Thursday it was discontinuing the late-stage study for its rare neurological disorder treatment after it failed to improve patients’ ability to conduct daily activities such as eating and walking, sending shares down 30%. …
  • Retrophin Sinks as Drug “Pharma Bro” Martin Shkreli Co-Invented Fails 22 Aug 2019 13:56 Xconomy Xconomy San Diego —  Retrophin, the drug developer founded by jailed former biotech executive Martin Shkreli, has failed its first big test. The San Diego-based company’s experimental drug fosmetpantotenate failed a Phase 3 trial, FORT, in patients with a …

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

Learn more about the Fort Study here.

Related Terms:

Eye of the Tiger


Iron accumulation

NBIA Disorders


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